Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.P633Splc

ANO5

364 papers

RefSeq Summary

This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnath...

Pfam Domains

Anoct_dimeraa 72–289UCSCAnoctamin, dimerisation domain
Anoctaminaa 292–868UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 5

HGNC Previous Symbols

TMEM16E; LGMD2L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
23 papers
NM_213599.3
p.P633Splc
c.1898+1G>A
Surrounding Variants
1 paper
NM_213599.3
p.I627delFs
c.1879_1880delAT
1 paper
NM_213599.3
p.K621_I623del3
c.1861_1868del9
1 paper
NM_213599.3
p.M618I
c.1854G>A
1 paper
NM_213599.3
p.M618I
c.1854G>C
1 paper
NM_213599.3
p.M618I
c.1854G>T
1 paper
NM_213599.3
p.M618T
c.1853T>C
1 paper
NM_213599.3
p.I616F
c.1846A>T
1 paper
NM_213599.3
p.T611I
c.1832C>T
1 paper
NM_213599.3
p.L610L
c.1830G>A
3 papers
NM_213599.3
p.C601*
c.1803T>A
1 paper
NM_213599.3
p.C601R
c.1801T>C
1 paper
NM_213599.3
p.E599insFs
c.1795_1796insA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."