Varaico: Literature-Extracted Genetic Variants

Gene:CLCA2
Variant:p.H584Y

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.H584Y
c.1750C>T
Surrounding Variants
1 paper
NM_006536.7
p.L589V
c.1765C>G
2 papers
NM_006536.7
p.W575C
c.1725G>C
4 papers
NM_006536.7
p.W575C
c.1725G>T
1 paper
NM_006536.7
p.R596R
c.1788C>T
1 paper
NM_006536.7
p.A597T
c.1789G>A
1 paper
NM_006536.7
p.A605V
c.1814C>T
1 paper
NM_006536.7
p.V611L
c.1831G>C
1 paper
NM_006536.7
p.V611L
c.1831G>T
1 paper
NM_006536.7
p.N627D
c.1879A>G
1 paper
NM_006536.7
p.G631A
c.1892G>C
1 paper
NM_006536.7
p.D659V
c.1976A>T
1 paper
NM_006536.7
p.F677L
c.2029T>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."