Varaico: Literature-Extracted Genetic Variants

Gene:CLCA1
Variant:p.Y661H

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
2 papers
NM_001285.4
p.Y661H
c.1981T>C
Surrounding Variants
1 paper
NM_001285.4
p.S659L
c.1976C>T
1 paper
NM_001285.4
p.D650H
c.1948G>C
1 paper
NM_001285.4
p.R676W
c.2026C>T
1 paper
NM_001285.4
p.E703K
c.2107G>A
1 paper
NM_001285.4
p.D705Splc
c.2113+96T>A
1 paper
NM_001285.4
p.L642V
c.1924C>G
1 paper
NM_001285.4
p.T637I
c.1910C>T
1 paper
NM_001285.4
p.S625T
c.1874G>C
1 paper
NM_001285.4
p.A624T
c.1870G>A
1 paper
NM_001285.4
p.A612V
c.1835C>T
1 paper
NM_001285.4
p.V609I
c.1825G>A
1 paper
NM_001285.4
p.P607H
c.1820C>A
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