Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.C356W

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
3 papers
NM_213599.3
p.C356W
c.1068T>G
Surrounding Variants
19 papers
NM_213599.3
p.C356Y
c.1067G>A
7 papers
NM_213599.3
p.C356F
c.1067G>T
1 paper
NM_213599.3
p.C356S
c.1066T>A
24 papers
NM_213599.3
p.C356R
c.1066T>C
24 papers
NM_213599.3
p.C356G
c.1066T>G
1 paper
NM_213599.3
p.L355P
c.1064T>C
2 papers
NM_213599.3
p.L355F
c.1063C>T
1 paper
NM_213599.3
p.V359_C360insFs
c.1077_1078ins5
1 paper
NM_213599.3
p.V359_C360ins4
c.1077_1078ins12
3 papers
NM_213599.3
p.C360R
c.1078T>C
17 papers
NM_213599.3
p.C360Y
c.1079G>A
1 paper
NM_213599.3
p.C360_D361ins10
c.1080_1081ins30
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