Varaico: Literature-Extracted Genetic Variants

Gene:CLCA1
Variant:p.E157Q

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
5 papers
NM_001285.4
p.E157Q
c.469G>C
Surrounding Variants
1 paper
NM_001285.4
p.F154I
c.460T>A
1 paper
NM_001285.4
p.R162*
c.484C>T
1 paper
NM_001285.4
p.D167A
c.500A>C
1 paper
NM_001285.4
p.E168A
c.503A>C
1 paper
NM_001285.4
p.N179D
c.535A>G
1 paper
NM_001285.4
p.I182delFs
c.544delA
1 paper
NM_001285.4
p.R186Splc
c.557+1156G>A
1 paper
NM_001285.4
p.G151Splc
c.451+1G>A
1 paper
NM_001285.4
p.P136P
c.408T>C
1 paper
NM_001285.4
p.E130K
c.388G>A
1 paper
NM_001285.4
p.D115N
c.343G>A
1 paper
NM_001285.4
p.A102D
c.305C>A
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