Varaico: Literature-Extracted Genetic Variants

Gene:CLCA1
Variant:p.K450N

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.K450N
c.1350A>T
Surrounding Variants
1 paper
NM_001285.4
p.K450N
c.1350A>C
1 paper
NM_001285.4
p.E444Q
c.1330G>C
1 paper
NM_001285.4
p.G438A
c.1313G>C
1 paper
NM_001285.4
p.A436T
c.1306G>A
1 paper
NM_001285.4
p.A430D
c.1289C>A
1 paper
NM_001285.4
p.C421S
c.1262G>C
1 paper
NM_001285.4
p.C421S
c.1261T>A
1 paper
NM_001285.4
p.G413R
c.1237G>A
1 paper
NM_001285.4
p.D412A
c.1235A>C
1 paper
NM_001285.4
p.T402A
c.1204A>G
2 papers
NM_001285.4
p.Q464H
c.1392G>C
2 papers
NM_001285.4
p.Q464H
c.1392G>T
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