Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.R758C

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
52 papers
NM_213599.3
p.R758C
c.2272C>T
Surrounding Variants
3 papers
NM_213599.3
p.R758H
c.2273G>A
1 paper
NM_213599.3
p.L759_Y761del3
c.2275_2282del9
1 paper
NM_213599.3
p.P757A
c.2269C>G
1 paper
NM_213599.3
p.S753S
c.2259A>G
1 paper
NM_213599.3
p.Y762C
c.2285A>G
1 paper
NM_213599.3
p.Y763fs
c.2287_2288fs
1 paper
NM_213599.3
p.Y763C
c.2288A>G
1 paper
NM_213599.3
p.T752T
c.2256G>A
1 paper
NM_213599.3
p.T752M
c.2255C>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.S766*
c.2297C>A
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