Varaico: Literature-Extracted Genetic Variants

Gene:ANO5

ANO5

364 papers

RefSeq Summary

This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnath...

Pfam Domains

Anoct_dimeraa 72–289UCSCAnoctamin, dimerisation domain
Anoctaminaa 292–868UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 5

HGNC Previous Symbols

TMEM16E; LGMD2L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 543 variants
113 papers
NM_213599.3
p.N64insFs
c.191dupA
52 papers
NM_213599.3
p.R758C
c.2272C>T
39 papers
NM_213599.3
p.G231V
c.692G>T
35 papers
NM_213599.3
p.R58W
c.172C>T
32 papers
NM_213599.3
p.N64fs
c.190_191fs
26 papers
NM_213599.3
p.F578S
c.1733T>C
24 papers
NM_213599.3
p.C356R
c.1066T>C
24 papers
NM_213599.3
p.C356G
c.1066T>G
23 papers
NM_213599.3
p.T513I
c.1538C>T
23 papers
NM_213599.3
p.P633Splc
c.1898+1G>A
19 papers
NM_213599.3
p.C356Y
c.1067G>A
17 papers
NM_213599.3
p.N52S
c.155A>G
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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."