Varaico: Literature-Extracted Genetic Variants

Gene:CLCA2
Variant:p.R458H

CLCA2

102 papers

RefSeq Summary

This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. The enco...

Pfam Domains

CLCAaa 33–292UCSCCalcium-activated chloride channel N terminal

Gene Aliases

HGNC Name

chloride channel accessory 2

HGNC Alias Symbol

CLCRG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006536.7
p.R458H
c.1373G>A
Surrounding Variants
1 paper
NM_006536.7
p.T460A
c.1378A>G
2 papers
NM_006536.7
p.E454V
c.1361A>T
1 paper
NM_006536.7
p.A449A
c.1347A>T
1 paper
NM_006536.7
p.A444A
c.1332C>T
1 paper
NM_006536.7
p.L430I
c.1288T>A
1 paper
NM_006536.7
p.C429*
c.1287C>A
1 paper
NM_006536.7
p.G427D
c.1280G>A
1 paper
NM_006536.7
p.G412G
c.1236C>T
1 paper
NM_006536.7
p.G461Splc
c.1382-2A>G
1 paper
NM_006536.7
p.K464M
c.1391A>T
1 paper
NM_006536.7
p.I477L
c.1429A>C
3 papers
NM_006536.7
p.A479S
c.1435G>T
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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."