Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.D533N

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
2 papers
NM_018075.5
p.D533N
c.1597G>A
Surrounding Variants
3 papers
NM_018075.5
p.L535*
c.1604T>G
3 papers
NM_018075.5
p.L535*
c.1604T>A
2 papers
NM_018075.5
p.L535fs
c.1603_1604fs
4 papers
NM_018075.5
p.L535delFs
c.1604delA
2 papers
NM_018075.5
p.E529Q
c.1585G>C
1 paper
NM_018075.5
p.N525_N526del2
c.1573_1577del6
1 paper
NM_018075.5
p.K542I
c.1625A>T
1 paper
NM_018075.5
p.A520fs
c.1558_1559fs
3 papers
NM_018075.5
p.A520insFs
c.1558dupG
2 papers
NM_018075.5
p.A520fs
c.1558_1559fs
1 paper
NM_018075.5
p.E547Q
c.1639G>C
1 paper
NM_018075.5
p.A518fs
c.1552_1553fs
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