KNDC1

Chr 10

kinase non-catalytic C-lobe domain containing 1

Also known as: C10orf23, RASGEF2, Very-KIND, bB439H18.3, v-KIND

The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]

0
Active trials
2
Pubs (1 yr)
98
P/LP submissions
0%
P/LP missense
0.40
LOEUF
Mechanism
Clinical SummaryKNDC1
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.
📋
ClinVar Variants
98 unique Pathogenic / Likely Pathogenic· 334 VUS of 495 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.40LOEUF
pLI 0.002
Z-score 5.76
OE 0.27 (0.190.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.89Z-score
OE missense 0.92 (0.870.97)
968 obs / 1049.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.27 (0.190.40)
00.351.4
Missense OE0.92 (0.870.97)
00.61.4
Synonymous OE1.00
01.21.6
LoF obs/exp: 20 / 73.1Missense obs/exp: 968 / 1049.5Syn Z: -0.07

ClinVar Variant Classifications

495 submitted variants in ClinVar

Classification Summary

Pathogenic93
Likely Pathogenic5
VUS334
Likely Benign36
Benign9
Conflicting1
93
Pathogenic
5
Likely Pathogenic
334
VUS
36
Likely Benign
9
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
93
0
93
Likely Pathogenic
0
0
5
0
5
VUS
0
316
18
0
334
Likely Benign
0
29
2
5
36
Benign
0
6
1
2
9
Conflicting
1
Total03511197478

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KNDC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗