Varaico: Literature-Extracted Genetic Variants

Gene:ANO9
Variant:p.K186R

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.K186R
c.557A>G
Surrounding Variants
1 paper
NM_001012302.3
p.F183L
c.549T>G
1 paper
NM_001012302.3
p.F183L
c.549T>A
1 paper
NM_001012302.3
p.F183L
c.547T>C
2 papers
NM_001012302.3
p.V202L
c.604G>T
2 papers
NM_001012302.3
p.V202L
c.604G>C
1 paper
NM_001012302.3
p.A221V
c.662C>T
1 paper
NM_001012302.3
p.I224F
c.670A>T
1 paper
NM_001012302.3
p.C229R
c.685T>C
1 paper
NM_001012302.3
p.H242P
c.725A>C
1 paper
NM_001012302.3
p.R248W
c.742C>T
1 paper
NM_001012302.3
p.R248Q
c.743G>A
1 paper
NM_001012302.3
p.F255L
c.763T>C
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