Varaico: Literature-Extracted Genetic Variants

Gene:ANO6
Variant:p.D408G

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
2 papers
NM_001025356.3
p.D408G
c.1223A>G
Surrounding Variants
1 paper
NM_001025356.3
p.D408N
c.1222G>A
1 paper
NM_001025356.3
p.D408E
c.1224T>A
1 paper
NM_001025356.3
p.D408E
c.1224T>G
1 paper
NM_001025356.3
p.W407fs
c.1219_1220fs
3 papers
NM_001025356.3
p.W407insFs
c.1219_1220insT
1 paper
NM_001025356.3
p.Q417*
c.1249C>T
2 papers
NM_001025356.3
p.R419*
c.1255C>T
NM_001204803.2
p.R440*
c.1318C>T
1 paper
NM_001025356.3
p.R419Q
c.1256G>A
1 paper
NM_001025356.3
p.W396L
c.1187G>T
1 paper
NM_001025356.3
p.E421_Y422insFs
c.1262_1265dup4
1 paper
NM_001025356.3
p.E394insFs
c.1181_1182ins4
1 paper
NM_001025356.3
p.E394fs
c.1180_1181fs
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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."