Varaico: Literature-Extracted Genetic Variants

Gene:CLCA1
Variant:p.M288I

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.M288I
c.864G>C
Surrounding Variants
1 paper
NM_001285.4
p.M288I
c.864G>A
1 paper
NM_001285.4
p.M288I
c.864G>T
1 paper
NM_001285.4
p.T286I
c.857C>T
1 paper
NM_001285.4
p.K284insFs
c.850dupA
1 paper
NM_001285.4
p.T296T
c.888C>A
1 paper
NM_001285.4
p.T296T
c.888C>G
1 paper
NM_001285.4
p.C308S
c.922T>A
1 paper
NM_001285.4
p.C308S
c.923G>C
1 paper
NM_001285.4
p.D312A
c.935A>C
1 paper
NM_001285.4
p.S314A
c.940T>G
1 paper
NM_001285.4
p.T251T
c.753A>G
1 paper
NM_001285.4
p.F249I
c.745T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."