Varaico: Literature-Extracted Genetic Variants

Gene:CLCA2
Variant:p.M525T

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.M525T
c.1574T>C
Surrounding Variants
2 papers
NM_006536.7
p.G534D
c.1601G>A
1 paper
NM_006536.7
p.Q509*
c.1525C>T
1 paper
NM_006536.7
p.H507N
c.1519C>A
1 paper
NM_006536.7
p.K505N
c.1515A>C
1 paper
NM_006536.7
p.K505N
c.1515A>T
2 papers
NM_006536.7
p.R560W
c.1678C>T
1 paper
NM_006536.7
p.Q496_L497Splc
c.1488+24T>C
1 paper
NM_006536.7
p.Q496_L497Splc
c.1488+14C>A
1 paper
NM_006536.7
p.Q493H
c.1479A>T
1 paper
NM_006536.7
p.S481G
c.1441A>G
3 papers
NM_006536.7
p.A479S
c.1435G>T
1 paper
NM_006536.7
p.I477L
c.1429A>C
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