Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.G231E

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
1 paper
NM_213599.3
p.G231E
c.692G>A
Surrounding Variants
39 papers
NM_213599.3
p.G231V
c.692G>T
2 papers
NM_213599.3
p.D230G
c.689A>G
1 paper
NM_213599.3
p.D230Y
c.688G>T
1 paper
NM_213599.3
p.R234S
c.702G>T
1 paper
NM_213599.3
p.G227A
c.680G>C
1 paper
NM_213599.3
p.R223T
c.668G>C
1 paper
NM_213599.3
p.R223delFs
c.669delA
1 paper
NM_213599.3
p.L240L
c.720G>T
1 paper
NM_213599.3
p.L221H
c.662T>A
1 paper
NM_213599.3
p.L241insFs
c.722_723insC
1 paper
NM_213599.3
p.S243fs
c.727_728fs
3 papers
NM_213599.3
p.Y219C
c.656A>G
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