Varaico: Literature-Extracted Genetic Variants

Gene:CLCA1
Variant:p.N357S

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
9 papers
NM_001285.4
p.N357S
c.1070A>G
Surrounding Variants
1 paper
NM_001285.4
p.A372T
c.1114G>A
1 paper
NM_001285.4
p.A377S
c.1129G>T
1 paper
NM_001285.4
p.T383A
c.1147A>G
1 paper
NM_001285.4
p.T383T
c.1149G>A
1 paper
NM_001285.4
p.C386S
c.1156T>A
1 paper
NM_001285.4
p.C386S
c.1157G>C
1 paper
NM_001285.4
p.Q328K
c.982C>A
1 paper
NM_001285.4
p.R325*
c.973C>T
1 paper
NM_001285.4
p.S391*
c.1172C>A
1 paper
NM_001285.4
p.A318_T319Splc
c.955-394A>G
1 paper
NM_001285.4
p.S314A
c.940T>G
1 paper
NM_001285.4
p.D312A
c.935A>C
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