Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.N52S

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
17 papers
NM_213599.3
p.N52S
c.155A>G
Surrounding Variants
1 paper
NM_213599.3
p.N52ins8
c.155_156ins24
1 paper
NM_213599.3
p.N52K
c.156T>A
1 paper
NM_213599.3
p.N52K
c.156T>G
1 paper
NM_213599.3
p.L53W
c.158T>G
1 paper
NM_213599.3
p.R50Q
c.149G>A
2 papers
NM_213599.3
p.F54S
c.161T>C
1 paper
NM_213599.3
p.F54ins8
c.161_162ins24
5 papers
NM_213599.3
p.R50*
c.148C>T
1 paper
NM_213599.3
p.K49N
c.147G>C
1 paper
NM_213599.3
p.K49N
c.147G>T
1 paper
NM_213599.3
p.R56W
c.166A>T
8 papers
NM_213599.3
p.R57W
c.169C>T
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