Varaico: Literature-Extracted Genetic Variants

Gene:ANO2
Variant:p.L505V

ANO2

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001364791.2
p.L505V
c.1513T>G
Surrounding Variants
2 papers
NM_001364791.2
p.S500F
c.1499C>T
1 paper
NM_001364791.2
p.S481T
c.1441T>A
1 paper
NM_001278596.3
p.Q483_E484Splc
c.1449+1G>C
1 paper
NM_001364791.2
p.E478K
c.1432G>A
1 paper
NM_001364791.2
p.G473R
c.1417G>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."