Varaico: Literature-Extracted Genetic Variants

Gene:CLIC5
Variant:p.R12delFs

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
2 papers
NM_016929.5
p.R12delFs
c.35delC
Surrounding Variants
6 papers
NM_016929.5
p.K21_A22Splc
c.63+1G>A
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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."