Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.L492_G493Splc

ANO10

172 papers

RefSeq Summary

The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight tra...

Pfam Domains

Anoctaminaa 200–627UCSCCalcium-activated chloride channel
Anoctaminaa 200–627UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 10

HGNC Previous Symbol

TMEM16K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018075.5
p.L492_G493Splc
c.1477-2A>G
Surrounding Variants
1 paper
NM_018075.5
p.D496N
c.1486G>A
2 papers
NM_018075.5
p.D497N
c.1489G>A
2 papers
NM_018075.5
p.E500Q
c.1498G>C
9 papers
NM_018075.5
p.L510R
c.1529T>G
4 papers
NM_018075.5
p.C513R
c.1537T>C
1 paper
NM_018075.5
p.L517insFs
c.1551dupA
1 paper
NM_018075.5
p.A518fs
c.1552_1553fs
2 papers
NM_018075.5
p.A520fs
c.1558_1559fs
3 papers
NM_018075.5
p.A520insFs
c.1558dupG
1 paper
NM_018075.5
p.A520fs
c.1558_1559fs
1 paper
NM_018075.5
p.N525_N526del2
c.1573_1577del6
2 papers
NM_018075.5
p.E529Q
c.1585G>C
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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."