Varaico: Literature-Extracted Genetic Variants

Gene:ANO1
Variant:p.K50*

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.K50*
c.148A>T
Surrounding Variants
1 paper
NM_018043.7
p.K50Q
c.148A>C
1 paper
NM_018043.7
p.E48K
c.142G>A
1 paper
NM_018043.7
p.A47V
c.140C>T
1 paper
NM_018043.7
p.P45A
c.133C>G
1 paper
NM_018043.7
p.D57G
c.170A>G
1 paper
NM_018043.7
p.D57V
c.170A>T
1 paper
NM_018043.7
p.G58D
c.173G>A
1 paper
NM_018043.7
p.K61R
c.182A>G
1 paper
NM_018043.7
p.D63G
c.188A>G
4 papers
NM_018043.7
p.Y64insFs
c.191dupA
1 paper
NM_018043.7
p.Y64*
c.192C>G
1 paper
NM_018043.7
p.L66L
c.198G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."