Varaico: Literature-Extracted Genetic Variants

Gene:HEG1
Variant:p.L208H

HEG1

100 papers

Pfam Domains

EGFaa 989–1021UCSCEGF-like domain
EGF_CAaa 1025–1063UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

heart development protein with EGF like domains 1

HGNC Alias Symbol

KIAA1237

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020733.2
p.L208H
c.623T>A
Surrounding Variants
1 paper
NM_020733.2
p.S213I
c.638G>T
1 paper
NM_020733.2
p.S305P
c.913T>C
1 paper
NM_020733.2
p.G174S
c.520G>A
1 paper
NM_020733.2
p.S173G
c.517A>G
1 paper
NM_020733.2
p.A164T
c.490G>A
1 paper
NM_020733.2
p.E158D
c.474A>T
1 paper
NM_020733.2
p.A152G
c.455C>G
1 paper
NM_020733.2
p.S137F
c.410C>T
1 paper
NM_020733.2
p.E131K
c.391G>A
1 paper
NM_020733.2
p.T125S
c.373A>T
1 paper
NM_020733.2
p.H120R
c.359A>G
1 paper
NM_020733.2
p.S115C
c.343A>T
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