Varaico: Literature-Extracted Genetic Variants

Gene:CLCA1
Variant:p.D848Y

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.D848Y
c.2542G>T
Surrounding Variants
1 paper
NM_001285.4
p.D851N
c.2551G>A
1 paper
NM_001285.4
p.F841fs
c.2521_2522fs
1 paper
NM_001285.4
p.N858S
c.2573A>G
1 paper
NM_001285.4
p.I859F
c.2575A>T
1 paper
NM_001285.4
p.R861*
c.2581C>T
1 paper
NM_001285.4
p.I832M
c.2496T>G
3 papers
NM_001285.4
p.P871L
c.2612C>T
1 paper
NM_001285.4
p.S876delFs
c.2626delA
1 paper
NM_001285.4
p.S876fs
c.2626_2627fs
1 paper
NM_001285.4
p.T880M
c.2639C>T
2 papers
NM_001285.4
p.E805*
c.2413G>T
1 paper
NM_001285.4
p.F803L
c.2409C>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."