Varaico: Literature-Extracted Genetic Variants

Gene:CLIC5
Variant:p.V81A

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.V81A
c.242T>C
Surrounding Variants
1 paper
NM_016929.5
p.G79E
c.236G>A
6 papers
NM_016929.5
p.L75P
c.224T>C
NM_001114086.2
p.L234P
c.701T>C
1 paper
NM_016929.5
p.T70M
c.209C>T
1 paper
NM_016929.5
p.P68R
c.203C>G
1 paper
NM_016929.5
p.T95N
c.284C>A
1 paper
NM_016929.5
p.L96F
c.288G>T
1 paper
NM_016929.5
p.L96F
c.288G>C
1 paper
NM_016929.5
p.K100M
c.299A>T
2 papers
NM_016929.5
p.K100Splc
c.299+1G>A
1 paper
NM_016929.5
p.A61P
c.181G>C
1 paper
NM_016929.5
p.R58Splc
c.174-1G>A
1 paper
NM_016929.5
p.L56delFs
c.167delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."