Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.Q511E

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.Q511E
c.1531C>G
Surrounding Variants
1 paper
NM_213599.3
p.Q511_I512ins0
c.1533_1535dupGAT
1 paper
NM_213599.3
p.I512V
c.1534A>G
23 papers
NM_213599.3
p.T513I
c.1538C>T
2 papers
NM_213599.3
p.F507fs
c.1519_1520fs
1 paper
NM_213599.3
p.S515*
c.1544C>A
1 paper
NM_213599.3
p.S515*
c.1544C>G
8 papers
NM_213599.3
p.F507delFs
c.1520delT
2 papers
NM_213599.3
p.S515S
c.1545A>G
2 papers
NM_213599.3
p.S506G
c.1516A>G
1 paper
NM_213599.3
p.K505R
c.1514A>G
1 paper
NM_213599.3
p.G518*
c.1552G>T
12 papers
NM_213599.3
p.G518E
c.1553G>A
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