Varaico: Literature-Extracted Genetic Variants

Gene:CLIC5
Variant:p.F227S

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.F227S
c.680T>C
Surrounding Variants
2 papers
NM_016929.5
p.R224C
c.670C>T
1 paper
NM_016929.5
p.Y217H
c.649T>C
1 paper
NM_016929.5
p.E238K
c.712G>A
1 paper
NM_016929.5
p.W215*
c.645G>A
1 paper
NM_016929.5
p.W215*
c.644G>A
1 paper
NM_016929.5
p.V244I
c.730G>A
1 paper
NM_001114086.2
p.R406C
c.1216C>T
1 paper
NM_016929.5
p.K196_I197Splc
c.589-3T>C
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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."