Varaico: Literature-Extracted Genetic Variants

Gene:ANO3

ANO3

180 papers

RefSeq Summary

The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in thi...

Pfam Domains

Anoct_dimeraa 217–442UCSCAnoctamin, dimerisation domain
Anoctaminaa 445–1010UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 3

HGNC Previous Symbols

C11orf25; TMEM16C

Papers
RefSeq ID
Protein change
DNA change
1–12 of 259 variants
22 papers
NM_031418.4
p.S685G
c.2053A>G
21 papers
NM_031418.4
p.W490C
c.1470G>C
20 papers
NM_031418.4
p.W490C
c.1470G>T
17 papers
NM_031418.4
p.R494W
c.1480A>T
15 papers
NM_031418.4
p.A657T
c.1969G>A
14 papers
NM_031418.4
p.E510K
c.1528G>A
14 papers
NM_031418.4
p.K862N
c.2586G>C
14 papers
NM_031418.4
p.K862N
c.2586G>T
10 papers
NM_031418.4
p.S651N
c.1952G>A
10 papers
NM_031418.4
p.I833V
c.2497A>G
10 papers
NM_031418.4
p.Y847C
c.2540A>G
10 papers
NM_031418.4
p.G973R
c.2917G>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."