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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANO2

Variant:p.G5A

ANO2

12p13.31 (UCSC)OMIM GTEx

83 papers

RefSeq Summary

ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011].

Pfam Domains

Anoct_dimeraa 91–349UCSCAnoctamin, dimerisation domain

Anoctaminaa 352–942UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 2

HGNC Previous Symbols

C12orf3; TMEM16B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:5945204 C>G

NM_001364791.2

p.G5A

c.14G>C

exact variant not in gnomAD3 overlapping SVs

Surrounding Variants

chr12:5945215 C>T

NM_001364791.2

p.M1I

c.3G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a3 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."