Varaico: Literature-Extracted Genetic Variants

Gene:CLCA2
Variant:p.A479S

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
3 papers
NM_006536.7
p.A479S
c.1435G>T
Surrounding Variants
1 paper
NM_006536.7
p.I477L
c.1429A>C
1 paper
NM_006536.7
p.S481G
c.1441A>G
1 paper
NM_006536.7
p.K464M
c.1391A>T
1 paper
NM_006536.7
p.Q493H
c.1479A>T
1 paper
NM_006536.7
p.G461Splc
c.1382-2A>G
1 paper
NM_006536.7
p.Q496_L497Splc
c.1488+14C>A
1 paper
NM_006536.7
p.Q496_L497Splc
c.1488+24T>C
1 paper
NM_006536.7
p.T460A
c.1378A>G
1 paper
NM_006536.7
p.R458H
c.1373G>A
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
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