Varaico: Literature-Extracted Genetic Variants

Gene:CLCA1

CLCA1

124 papers

RefSeq Summary

This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree ...

Pfam Domains

CLCAaa 25–289UCSCCalcium-activated chloride channel N terminal
VWA_2aa 307–414UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

chloride channel accessory 1

HGNC Alias Symbols

CaCC; CLCRG1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 137 variants
9 papers
NM_001285.4
p.N357S
c.1070A>G
8 papers
NM_001285.4
p.M524T
c.1571T>C
7 papers
NM_001285.4
p.L65F
c.193C>T
5 papers
NM_001285.4
p.E157Q
c.469G>C
3 papers
NM_001285.4
p.P871L
c.2612C>T
2 papers
NM_001285.4
p.Q464H
c.1392G>C
2 papers
NM_001285.4
p.Q464H
c.1392G>T
2 papers
NM_001285.4
p.Q488H
c.1464G>C
2 papers
NM_001285.4
p.Q488H
c.1464G>T
2 papers
NM_001285.4
p.Y661H
c.1981T>C
2 papers
NM_001285.4
p.E805*
c.2413G>T
1 paper
NM_001285.4
p.S7T
c.19T>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."