Varaico: Literature-Extracted Genetic Variants

Gene:ANO7
Variant:p.R812C

ANO7

42 papers

RefSeq Summary

This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing resu...

Pfam Domains

Anoct_dimeraa 50–110UCSCAnoctamin, dimerisation domain
Anoct_dimeraa 51–278UCSCAnoctamin, dimerisation domain
Anoctaminaa 281–832UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 7

HGNC Previous Symbols

PCANAP5; TMEM16G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370694.2
p.R812C
c.2434C>T
Surrounding Variants
1 paper
NM_001370694.2
p.S809S
c.2427C>T
1 paper
NM_001370694.2
p.I821M
c.2463C>G
1 paper
NM_001370694.2
p.E858K
c.2572G>A
1 paper
NM_001370694.2
p.S860*
c.2579C>A
1 paper
NM_001370694.2
p.S860*
c.2579C>G
1 paper
NM_001370694.2
p.L862L
c.2586C>T
8 papers
NM_001370694.2
p.A759T
c.2275G>A
1 paper
NM_001370694.2
p.F756L
c.2268C>G
1 paper
NM_001370694.2
p.S725I
c.2174G>T
1 paper
NM_001370694.2
p.I724I
c.2172C>T
1 paper
NM_001370694.2
p.R619W
c.1855C>T
1 paper
NM_001370694.2
p.I600I
c.1800C>T
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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."