Varaico: Literature-Extracted Genetic Variants

Gene:ANO9
Variant:p.Y650N

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.Y650N
c.1948T>A
Surrounding Variants
1 paper
NM_001012302.3
p.H653P
c.1958A>C
1 paper
NM_001012302.3
p.D665A
c.1994A>C
3 papers
NM_001012302.3
p.P686T
c.2056C>A
1 paper
NM_001012302.3
p.E710_H711Splc
c.2131-1G>A
1 paper
NM_001012302.3
p.C715R
c.2143T>C
1 paper
NM_001012302.3
p.Q729*
c.2185C>T
1 paper
NM_001012302.3
p.L743L
c.2229G>A
1 paper
NM_001012302.3
p.P766L
c.2297C>T
2 papers
NM_001012302.3
p.P769R
c.2306C>G
1 paper
NM_001012302.3
p.G640A
c.1919G>C
1 paper
NM_001012302.3
p.R632C
c.1894C>T
1 paper
NM_001012302.3
p.G606S
c.1816G>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."