Varaico: Literature-Extracted Genetic Variants

Gene:ANO9

ANO9

72 papers

RefSeq Summary

The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein...

Pfam Domains

Anoct_dimeraa 110–176UCSCAnoctamin, dimerisation domain
Anoctaminaa 179–738UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 9

HGNC Previous Symbols

TP53I5; TMEM16J

Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
6 papers
NM_001012302.3
p.C399R
c.1195T>C
4 papers
NM_001012302.3
p.A51V
c.152C>T
4 papers
NM_001012302.3
p.I391V
c.1171A>G
3 papers
NM_001012302.3
p.P686T
c.2056C>A
2 papers
NM_001012302.3
p.P113L
c.338C>T
2 papers
NM_001012302.3
p.R121L
c.362G>T
2 papers
NM_001012302.3
p.V202L
c.604G>T
2 papers
NM_001012302.3
p.V202L
c.604G>C
2 papers
NM_001012302.3
p.V400M
c.1198G>A
2 papers
NM_001012302.3
p.Q486H
c.1458G>T
2 papers
NM_001012302.3
p.Q486H
c.1458G>C
2 papers
NM_001012302.3
p.T604A
c.1810A>G
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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."