Varaico: Literature-Extracted Genetic Variants

Gene:CLCA2
Variant:p.F677L

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.F677L
c.2029T>C
Surrounding Variants
1 paper
NM_006536.7
p.F677Y
c.2030T>A
1 paper
NM_006536.7
p.F677L
c.2031C>A
1 paper
NM_006536.7
p.F677L
c.2031C>G
1 paper
NM_006536.7
p.A680S
c.2038G>T
1 paper
NM_006536.7
p.A681E
c.2042C>A
1 paper
NM_006536.7
p.G683R
c.2047G>C
1 paper
NM_006536.7
p.T716R
c.2147C>G
1 paper
NM_006536.7
p.N720T
c.2159A>C
1 paper
NM_006536.7
p.R732K
c.2195G>A
1 paper
NM_006536.7
p.D659V
c.1976A>T
1 paper
NM_006536.7
p.G748C
c.2242G>T
2 papers
NM_006536.7
p.G754E
c.2261G>A
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