CLIC1

Chr 6

CLIC family member 1

Also known as: CL1C1, CLCNL1, G6, NCC27

Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
47
Pubs (1 yr)
P/LP submissions
P/LP missense
1.26
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.26LOEUF
pLI 0.000
Z-score 0.97
OE 0.67 (0.381.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.43Z-score
OE missense 0.65 (0.540.77)
83 obs / 128.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.381.26)
00.351.4
Missense OE?0.65 (0.540.77)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 7 / 10.4Missense obs/exp: 83 / 128.6Syn Z: 0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CLIC1 · 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 →