Varaico: Literature-Extracted Genetic Variants

Gene:ANO9
Variant:p.L462P

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.L462P
c.1385T>C
Surrounding Variants
1 paper
NM_001012302.3
p.T454M
c.1361C>T
1 paper
NM_001012302.3
p.G451R
c.1351G>C
1 paper
NM_001012302.3
p.G451R
c.1351G>A
1 paper
NM_001012302.3
p.N447N
c.1341C>T
1 paper
NM_001012302.3
p.R445Splc
c.1335-32C>T
1 paper
NM_001012302.3
p.H466Q
c.1398C>G
1 paper
NM_001012302.3
p.H466Q
c.1398C>A
1 paper
NM_001012302.3
p.G469R
c.1405G>C
2 papers
NM_001012302.3
p.Q486H
c.1458G>T
2 papers
NM_001012302.3
p.Q486H
c.1458G>C
1 paper
NM_001012302.3
p.T487M
c.1460C>T
1 paper
NM_001012302.3
p.S511S
c.1533C>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."