Varaico: Literature-Extracted Genetic Variants

Gene:ANO6
Variant:p.I211_V212Splc

ANO6

130 papers

RefSeq Summary

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell s...

Pfam Domains

Anoct_dimeraa 61–284UCSCAnoctamin, dimerisation domain
Anoctaminaa 287–870UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 6

HGNC Previous Symbol

TMEM16F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001025356.3
p.I211_V212Splc
c.634-1G>A
Surrounding Variants
1 paper
NM_001025356.3
p.V219_K220delFs
c.657_658delCA
1 paper
NM_001025356.3
p.I232fs
c.694_695fs
4 papers
NM_001025356.3
p.D249_C250Splc
c.747+1G>A
1 paper
NM_001025356.3
p.R208K
c.623G>A
2 papers
NM_001025356.3
p.F203I
c.607T>A
1 paper
NM_001025356.3
p.D198N
c.592G>A
1 paper
NM_001025356.3
p.R190Q
c.569G>A
1 paper
NM_001025356.3
p.N189K
c.567C>A
1 paper
NM_001025356.3
p.P177A
c.529C>G
1 paper
NM_001025356.3
p.R154W
c.460C>T
1 paper
NM_001025356.3
p.N153N
c.459C>T
1 paper
NM_001025356.3
p.P145L
c.434C>T
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