Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010]

OMIMResearchGenerating clinical summary…
LOEUF 1.48
Clinical SummaryLYPD6
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
20 VUS of 24 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.48LOEUF
pLI 0.000
Z-score 0.44
OE 0.85 (0.511.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.33Z-score
OE missense 0.91 (0.761.08)
87 obs / 96.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.511.48)
00.351.4
Missense OE?0.91 (0.761.08)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 9 / 10.5Missense obs/exp: 87 / 96.1Syn Z: 0.33

ClinVar Variant Classifications

24 submitted variants in ClinVar

Classification Summary

VUS20
Benign1
20
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
20
0
0
20
Likely Benign
0
0
0
0
0
Benign
0
0
0
1
1
Total0200121

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

View in ClinVar →

18 pathogenic / likely-pathogenic (of 22) ClinVar copy-number / structural variants overlap LYPD6 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

LYPD6 · 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 →