Varaico: Literature-Extracted Genetic Variants

Gene:CLCA2
Variant:p.Q34H

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.Q34H
c.102G>C
Surrounding Variants
1 paper
NM_006536.7
p.D37N
c.109G>A
1 paper
NM_006536.7
p.N41K
c.123T>A
1 paper
NM_006536.7
p.P27T
c.79C>A
1 paper
NM_006536.7
p.E25K
c.73G>A
1 paper
NM_006536.7
p.L22*
c.65T>A
1 paper
NM_006536.7
p.P52T
c.154C>A
1 paper
NM_006536.7
p.Q55*
c.163C>T
1 paper
NM_006536.7
p.R4K
c.11G>A
1 paper
NM_006536.7
p.Q3Q
c.9A>G
1 paper
NM_006536.7
p.Q3Fs
c.7delinsTGGTCFs
1 paper
NM_006536.7
p.F73insFs
c.218dupT
1 paper
NM_006536.7
p.F73C
c.218T>G
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