Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.L781P

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
Selected Variant
2 papers
NM_213599.3
p.L781P
c.2342T>C
Surrounding Variants
1 paper
NM_213599.3
p.L785R
c.2354T>G
2 papers
NM_213599.3
p.M773V
c.2317A>G
3 papers
NM_213599.3
p.Q771fs
c.2311_2312fs
1 paper
NM_213599.3
p.H792P
c.2375A>C
1 paper
NM_213599.3
p.T770I
c.2309C>T
6 papers
NM_213599.3
p.Q771delFs
c.2311_2312delCA
1 paper
NM_213599.3
p.P795L
c.2384C>T
1 paper
NM_213599.3
p.S766*
c.2297C>A
10 papers
NM_213599.3
p.S796L
c.2387C>T
1 paper
NM_213599.3
p.Y765*
c.2295C>A
1 paper
NM_213599.3
p.Y765*
c.2295C>G
1 paper
NM_213599.3
p.E797K
c.2389G>A
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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."