Varaico: Literature-Extracted Genetic Variants

Gene:ENTHD1
Variant:p.E412K

ENTHD1

34 papers

Pfam Domains

ENTHaa 14–137UCSCENTH domain

Gene Aliases

HGNC Name

ENTH domain containing 1

HGNC Alias Symbol

FLJ25421

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152512.4
p.E412K
c.1234G>A
Surrounding Variants
1 paper
NM_152512.4
p.A414G
c.1241C>G
1 paper
NM_152512.4
p.V407F
c.1219G>T
1 paper
NM_152512.4
p.P419H
c.1256C>A
1 paper
NM_152512.4
p.L441L
c.1321C>T
1 paper
NM_152512.4
p.D463N
c.1387G>A
1 paper
NM_152512.4
p.G476D
c.1427G>A
1 paper
NM_152512.4
p.I493V
c.1477A>G
1 paper
NM_152512.4
p.P495S
c.1483C>T
1 paper
NM_152512.4
p.H507Y
c.1519C>T
1 paper
NM_152512.4
p.S510G
c.1528A>G
1 paper
NM_152512.4
p.G531D
c.1592G>A
1 paper
NM_152512.4
p.Q540*
c.1618C>T
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