Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.G76R

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.G76R
c.226G>A
Surrounding Variants
1 paper
NM_213599.3
p.G76R
c.226G>C
1 paper
NM_213599.3
p.G76E
c.227G>A
10 papers
NM_213599.3
p.R74*
c.220C>T
1 paper
NM_213599.3
p.I80fs
c.238_239fs
1 paper
NM_213599.3
p.F72delFs
c.214_215delTT
1 paper
NM_213599.3
p.D81_F82insA
c.241_245ins3
9 papers
NM_213599.3
p.D81G
c.242A>G
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.Y86insFs
c.258dupC
2 papers
NM_213599.3
p.V87I
c.259G>A
4 papers
NM_213599.3
p.N64K
c.192T>A
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