Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.A98_E99Splc

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
2 papers
NM_213599.3
p.A98_E99Splc
c.294+5G>A
Surrounding Variants
1 paper
NM_213599.3
p.A98_E99Splc
c.294+1G>A
2 papers
NM_213599.3
p.A98A
c.294G>A
1 paper
NM_213599.3
p.K97R
c.290A>G
2 papers
NM_213599.3
p.A94T
c.280G>A
2 papers
NM_213599.3
p.D93E
c.279C>A
2 papers
NM_213599.3
p.D93E
c.279C>G
2 papers
NM_213599.3
p.D93N
c.277G>A
1 paper
NM_213599.3
p.K92*
c.274A>T
1 paper
NM_213599.3
p.K91*
c.271A>T
2 papers
NM_213599.3
p.D89D
c.267T>C
1 paper
NM_213599.3
p.D88D
c.264T>C
2 papers
NM_213599.3
p.V87I
c.259G>A
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