Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.E599insFs

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.E599insFs
c.1795_1796insA
Surrounding Variants
1 paper
NM_213599.3
p.S598_E599delFs
c.1793_1796del4
6 papers
NM_213599.3
p.R597I
c.1790G>T
1 paper
NM_213599.3
p.E595E
c.1785G>A
1 paper
NM_213599.3
p.F593fs
c.1777_1778fs
1 paper
NM_213599.3
p.F593_N594delFs
c.1777_1780del4
1 paper
NM_213599.3
p.T590_Y591delFs
c.1770_1773del4
1 paper
NM_213599.3
p.Y589*
c.1767C>A
1 paper
NM_213599.3
p.Y589*
c.1767C>G
1 paper
NM_213599.3
p.Y589delFs
c.1765delT
2 papers
NM_213599.3
p.G587E
c.1760G>A
5 papers
NM_213599.3
p.V583I
c.1747G>A
1 paper
NM_213599.3
p.K579N
c.1737A>C
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