Varaico: Literature-Extracted Genetic Variants

Gene:ANO9
Variant:p.P100P

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
1 paper
NM_001012302.3
p.P100P
c.300T>A
Surrounding Variants
1 paper
NM_001012302.3
p.H103delFs
c.307delG
1 paper
NM_001012302.3
p.H103fs
c.307_308fs
1 paper
NM_001012302.3
p.T92A
c.274A>G
1 paper
NM_001012302.3
p.G88D
c.263G>A
1 paper
NM_001012302.3
p.P113S
c.337C>T
2 papers
NM_001012302.3
p.P113L
c.338C>T
1 paper
NM_001012302.3
p.D83N
c.247G>A
1 paper
NM_001012302.3
p.R71W
c.211C>T
1 paper
NM_001012302.3
p.K68_V69Splc
c.205-158A>G
4 papers
NM_001012302.3
p.A51V
c.152C>T
1 paper
NM_001012302.3
p.Q50*
c.148C>T
1 paper
NM_001012302.3
p.Q45L
c.134A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."