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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANO10

Variant:p.F607L

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

Gene Aliases

HGNC Name

anoctamin 10

HGNC Previous Symbol

TMEM16K

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr3:43432706 A>G

NM_018075.5

p.F607L

c.1819T>C

Anoctamin

exact variant not in gnomAD68 overlapping SVs

Surrounding Variants

1 paper

chr3:43432708 T>C

NM_018075.5

p.K606R

c.1817A>G

Anoctamin

Exome: 0.0% (AC=61, hom=0)Genome: n/a68 overlapping SVs

15 papers

chr3:43432682 C>T

NM_018075.5

p.D615N

c.1843G>A

Anoctamin

Exome: 0.1% (AC=735, hom=0)Genome: 0.0% (AC=59, hom=0)68 overlapping SVs

2 papers

chr3:43432661 T>C

NM_018075.5

p.M622V

c.1864A>G

Anoctamin

Exome: 0.0% (AC=374, hom=0)Genome: 0.0% (AC=26, hom=0)68 overlapping SVs

1 paper

chr3:43432628 C>G

NM_018075.5

p.E633Q

c.1897G>C

exact variant not in gnomAD68 overlapping SVs

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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."