Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.I346L

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.I346L
c.1036A>C
Surrounding Variants
1 paper
NM_213599.3
p.D343D
c.1029C>T
2 papers
NM_213599.3
p.C342Y
c.1025G>A
1 paper
NM_213599.3
p.M350delFs
c.1048delA
1 paper
NM_213599.3
p.M350K
c.1049T>A
2 papers
NM_213599.3
p.M350I
c.1050G>A
2 papers
NM_213599.3
p.M350I
c.1050G>C
2 papers
NM_213599.3
p.M350I
c.1050G>T
2 papers
NM_213599.3
p.L355F
c.1063C>T
1 paper
NM_213599.3
p.L355P
c.1064T>C
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
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