Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.N366S

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.N366S
c.1097A>G
Surrounding Variants
2 papers
NM_213599.3
p.T368M
c.1103C>T
1 paper
NM_213599.3
p.W363*
c.1089G>A
2 papers
NM_213599.3
p.W363*
c.1088G>A
1 paper
NM_213599.3
p.D361H
c.1081G>C
1 paper
NM_213599.3
p.C360_D361ins10
c.1080_1081ins30
1 paper
NM_213599.3
p.S372*
c.1115C>A
1 paper
NM_213599.3
p.S372*
c.1115C>G
17 papers
NM_213599.3
p.C360Y
c.1079G>A
3 papers
NM_213599.3
p.C360R
c.1078T>C
1 paper
NM_213599.3
p.V359_C360insFs
c.1077_1078ins5
1 paper
NM_213599.3
p.V359_C360ins4
c.1077_1078ins12
2 papers
NM_213599.3
p.K373_F374Splc
c.1119+1G>A
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