Varaico: Literature-Extracted Genetic Variants

Gene:ANO6
Variant:p.K487E

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.K487E
c.1459A>G
Surrounding Variants
2 papers
NM_001025356.3
p.S485F
c.1454C>T
1 paper
NM_001025356.3
p.D496N
c.1486G>A
1 paper
NM_001025356.3
p.Q499L
c.1496A>T
1 paper
NM_001025356.3
p.L502fs
c.1504_1505fs
3 papers
NM_001025356.3
p.W462_I463Splc
c.1387-1G>T
1 paper
NM_001025356.3
p.S513F
c.1538C>T
1 paper
NM_001025356.3
p.I518T
c.1553T>C
1 paper
NM_001025356.3
p.I519T
c.1556T>C
1 paper
NM_001025356.3
p.I522T
c.1565T>C
1 paper
NM_001025356.3
p.E528G
c.1583A>G
1 paper
NM_001025356.3
p.Y546del1
c.1636_1637delTAT
1 paper
NM_001025356.3
p.E547Q
c.1639G>C
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