Varaico: Literature-Extracted Genetic Variants

Gene:CLCA4
Variant:p.I182delFs

CLCA4

104 papers

RefSeq Summary

The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share hi...

Pfam Domains

CLCAaa 24–289UCSCCalcium-activated chloride channel N terminal
VWAaa 307–472UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

chloride channel accessory 4

HGNC Alias Symbol

CaCC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012128.4
p.I182delFs
c.544delA
Surrounding Variants
1 paper
NM_012128.4
p.A177S
c.529G>T
2 papers
NM_012128.4
p.R176H
c.527G>A
1 paper
NM_012128.4
p.E183K
c.547G>A
1 paper
NM_012128.4
p.R186S
c.558G>C
1 paper
NM_012128.4
p.R186S
c.558G>T
1 paper
NM_012128.4
p.E167Q
c.499G>C
2 papers
NM_012128.4
p.G163A
c.488G>C
1 paper
NM_012128.4
p.E156Q
c.466G>C
1 paper
NM_012128.4
p.G150Splc
c.449-7C>T
1 paper
NM_012128.4
p.R186S
c.558G>C
2 papers
NM_012128.4
p.S192Y
c.575C>A
1 paper
NM_012128.4
p.S192C
c.575C>G
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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."