Varaico: Literature-Extracted Genetic Variants

Gene:CLCA1
Variant:p.F518L

CLCA1

124 papers

RefSeq Summary

This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree ...

Pfam Domains

CLCAaa 25–289UCSCCalcium-activated chloride channel N terminal
VWA_2aa 307–414UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

chloride channel accessory 1

HGNC Alias Symbols

CaCC; CLCRG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001285.4
p.F518L
c.1554T>G
Surrounding Variants
1 paper
NM_001285.4
p.F518L
c.1554T>A
1 paper
NM_001285.4
p.F518L
c.1552T>C
1 paper
NM_001285.4
p.D515A
c.1544A>C
1 paper
NM_001285.4
p.W522*
c.1566G>A
8 papers
NM_001285.4
p.M524T
c.1571T>C
1 paper
NM_001285.4
p.V512M
c.1534G>A
1 paper
NM_001285.4
p.V512L
c.1534G>C
1 paper
NM_001285.4
p.V512L
c.1534G>T
1 paper
NM_001285.4
p.V508M
c.1522G>A
1 paper
NM_001285.4
p.G541D
c.1622G>A
1 paper
NM_001285.4
p.Y552*
c.1656C>A
1 paper
NM_001285.4
p.Y552*
c.1656C>G
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