Varaico: Literature-Extracted Genetic Variants

Gene:ANO9
Variant:p.R166fs

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.R166fs
c.496_497fs
Surrounding Variants
1 paper
NM_001012302.3
p.R166delFs
c.498delC
1 paper
NM_001012302.3
p.M170V
c.508A>G
1 paper
NM_001012302.3
p.R159H
c.476G>A
1 paper
NM_001012302.3
p.G156W
c.466G>T
1 paper
NM_001012302.3
p.G156R
c.466G>C
1 paper
NM_001012302.3
p.G156R
c.466G>A
1 paper
NM_001012302.3
p.K155Q
c.463A>C
1 paper
NM_001012302.3
p.A134T
c.400G>A
1 paper
NM_001012302.3
p.N130S
c.389A>G
1 paper
NM_001012302.3
p.N129K
c.387C>G
1 paper
NM_001012302.3
p.N129K
c.387C>A
2 papers
NM_001012302.3
p.R121L
c.362G>T
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