Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.E797K

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
1 paper
NM_213599.3
p.E797K
c.2389G>A
Surrounding Variants
2 papers
NM_213599.3
p.K798insFs
c.2394dupA
1 paper
NM_213599.3
p.E797A
c.2390A>C
10 papers
NM_213599.3
p.S796L
c.2387C>T
1 paper
NM_213599.3
p.P795L
c.2384C>T
1 paper
NM_213599.3
p.R799G
c.2395C>G
2 papers
NM_213599.3
p.R799*
c.2395C>T
1 paper
NM_213599.3
p.R799fs
c.2395_2396fs
1 paper
NM_213599.3
p.H792P
c.2375A>C
1 paper
NM_213599.3
p.F801F
c.2403C>T
1 paper
NM_213599.3
p.I802I
c.2406C>T
5 papers
NM_213599.3
p.C804S
c.2410T>A
6 papers
NM_213599.3
p.C804S
c.2411G>C
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