Varaico: Literature-Extracted Genetic Variants

Gene:ANO1
Variant:p.K218M

ANO1

213 papers

Pfam Domains

Anoct_dimeraa 54–317UCSCAnoctamin, dimerisation domain
Anoctaminaa 320–926UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 1

HGNC Previous Symbols

ORAOV2; TMEM16A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018043.7
p.K218M
c.653A>T
Surrounding Variants
3 papers
NM_018043.7
p.R219K
c.656G>A
1 paper
NM_018043.7
p.P214S
c.640C>T
1 paper
NM_018043.7
p.R226delFs
c.676_677delCG
1 paper
NM_018043.7
p.R226fs
c.676_677fs
1 paper
NM_018043.7
p.R226Q
c.677G>A
1 paper
NM_018043.7
p.R226L
c.677G>T
1 paper
NM_018043.7
p.K208*
c.622A>T
1 paper
NM_018043.7
p.P207S
c.619C>T
1 paper
NM_018043.7
p.Q206R
c.617A>G
2 papers
NM_018043.7
p.S196T
c.586T>A
1 paper
NM_018043.7
p.I194N
c.581T>A
1 paper
NM_018043.7
p.I194T
c.581T>C
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