Varaico: Literature-Extracted Genetic Variants

Gene:ANO4
Variant:p.E480K

ANO4

68 papers

Pfam Domains

Anoct_dimeraa 111–336UCSCAnoctamin, dimerisation domain
Anoctaminaa 339–920UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 4

HGNC Previous Symbol

TMEM16D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001286615.2
p.E480K
c.1438G>A
Surrounding Variants
1 paper
NM_001286615.2
p.M482K
c.1445T>A
1 paper
NM_001286615.2
p.S477F
c.1430C>T
1 paper
NM_001286615.2
p.I485T
c.1454T>C
1 paper
NM_001286615.2
p.G487R
c.1459G>C
1 paper
NM_001286615.2
p.R469Q
c.1406G>A
1 paper
NM_001286615.2
p.S505F
c.1514C>T
1 paper
NM_001286615.2
p.I513T
c.1538T>C
2 papers
NM_001286615.2
p.V520M
c.1558G>A
1 paper
NM_001286615.2
p.I523I
c.1569C>A
1 paper
NM_178826.4
p.V489I
c.1465G>A
1 paper
NM_001286615.2
p.V528M
c.1582G>A
1 paper
NM_001286615.2
p.V528E
c.1583T>A
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