Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.N64fs

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
32 papers
NM_213599.3
p.N64fs
c.190_191fs
Surrounding Variants
14 papers
NM_213599.3
p.N64fs
c.190_191fs
4 papers
NM_213599.3
p.N64K
c.192T>A
4 papers
NM_213599.3
p.N64K
c.192T>G
1 paper
NM_213599.3
p.Q62R
c.185A>G
113 papers
NM_213599.3
p.N64insFs
c.191dupA
1 paper
NM_213599.3
p.Q62*
c.184C>T
2 papers
NM_213599.3
p.N64delFs
c.191delA
1 paper
NM_213599.3
p.F61Fs
c.181delinsCAFs
2 papers
NM_213599.3
p.D69delFs
c.206_207delAT
1 paper
NM_213599.3
p.D69fs
c.205_206fs
1 paper
NM_213599.3
p.F72delFs
c.214_215delTT
10 papers
NM_213599.3
p.R74*
c.220C>T
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