Varaico: Literature-Extracted Genetic Variants

Gene:CLIC5
Variant:p.E110V

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.E110V
c.329A>T
Surrounding Variants
1 paper
NM_016929.5
p.R109Q
c.326G>A
1 paper
NM_016929.5
p.N112D
c.334A>G
3 papers
NM_016929.5
p.A114E
c.341C>A
1 paper
NM_016929.5
p.A105T
c.313G>A
1 paper
NM_016929.5
p.Q132P
c.395A>C
1 paper
NM_016929.5
p.N134S
c.401A>G
2 papers
NM_016929.5
p.K100Splc
c.299+1G>A
1 paper
NM_016929.5
p.K100M
c.299A>T
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.T95N
c.284C>A
1 paper
NM_016929.5
p.V81A
c.242T>C
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