Varaico: Literature-Extracted Genetic Variants

Gene:CLIC5
Variant:p.C32S

CLIC5

54 papers

RefSeq Summary

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in ...

Pfam Domains

CLIC-like_Naa 173–258UCSCCLIC-like N-terminal domain
GST_C_2aa 290–379UCSCGlutathione S-transferase, C-terminal domain

Gene Aliases

HGNC Name

chloride intracellular channel 5

HGNC Alias Symbol

DFNB102

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016929.5
p.C32S
c.94T>A
Surrounding Variants
1 paper
NM_016929.5
p.C32S
c.95G>C
11 papers
NM_016929.5
p.C32*
c.96T>A
1 paper
NM_016929.5
p.S35F
c.104C>T
1 paper
NM_016929.5
p.D25insFs
c.74dupA
1 paper
NM_016929.5
p.D25N
c.73G>A
1 paper
NM_016929.5
p.G23R
c.67G>A
1 paper
NM_016929.5
p.K45R
c.134A>G
1 paper
NM_016929.5
p.G46E
c.137G>A
1 paper
NM_016929.5
p.N50S
c.149A>G
1 paper
NM_016929.5
p.L56delFs
c.167delA
1 paper
NM_016929.5
p.R58Splc
c.174-1G>A
1 paper
NM_016929.5
p.A61P
c.181G>C
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