Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.F386fs

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.F386fs
c.1156_1157fs
Surrounding Variants
1 paper
NM_213599.3
p.F386delFs
c.1158delT
1 paper
NM_213599.3
p.V384M
c.1150G>A
2 papers
NM_213599.3
p.F389S
c.1166T>C
1 paper
NM_213599.3
p.M390I
c.1170G>A
1 paper
NM_213599.3
p.M390I
c.1170G>C
1 paper
NM_213599.3
p.M390I
c.1170G>T
1 paper
NM_213599.3
p.W393*
c.1178G>A
4 papers
NM_213599.3
p.V394Splc
c.1180+6T>C
1 paper
NM_213599.3
p.K373_F374Splc
c.1120-1G>A
3 papers
NM_213599.3
p.K373_F374Splc
c.1120-9T>G
2 papers
NM_213599.3
p.K373_F374Splc
c.1120-24A>T
1 paper
NM_213599.3
p.K373_F374Splc
c.1119+35G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."