HCFC1R1

Chr 16

host cell factor C1 regulator 1

Also known as: HPIP

Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.72
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.72LOEUF
pLI 0.001
Z-score 0.24
OE 0.89 (0.461.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.53Z-score
OE missense 1.17 (0.981.41)
84 obs / 71.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.89 (0.461.72)
00.351.4
Missense OE?1.17 (0.981.41)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 5 / 5.6Missense obs/exp: 84 / 71.5Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HCFC1R1 · 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 →