Varaico: Literature-Extracted Genetic Variants

Gene:ANO9
Variant:p.I391V

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
Selected Variant
4 papers
NM_001012302.3
p.I391V
c.1171A>G
Surrounding Variants
1 paper
NM_001012302.3
p.Y387*
c.1161T>G
1 paper
NM_001012302.3
p.V378M
c.1132G>A
1 paper
NM_001012302.3
p.T376M
c.1127C>T
1 paper
NM_001012302.3
p.A360A
c.1080G>A
1 paper
NM_001012302.3
p.A360T
c.1078G>A
1 paper
NM_001012302.3
p.K395_I396Splc
c.1186-2A>C
6 papers
NM_001012302.3
p.C399R
c.1195T>C
2 papers
NM_001012302.3
p.V400M
c.1198G>A
1 paper
NM_001012302.3
p.V353I
c.1057G>A
1 paper
NM_001012302.3
p.V335I
c.1003G>A
1 paper
NM_001012302.3
p.V332I
c.994G>A
1 paper
NM_001012302.3
p.E408Splc
c.1223-3C>T
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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."