Varaico: Literature-Extracted Genetic Variants

Gene:HEG1
Variant:p.R341G

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.R341G
c.1021A>G
Surrounding Variants
1 paper
NM_020733.2
p.E310Q
c.928G>C
1 paper
NM_020733.2
p.S305P
c.913T>C
1 paper
NM_020733.2
p.S381L
c.1142C>T
2 papers
NM_020733.2
p.S400F
c.1199C>T
1 paper
NM_020733.2
p.N432T
c.1295A>C
1 paper
NM_020733.2
p.A474T
c.1420G>A
1 paper
NM_020733.2
p.N481D
c.1441A>G
1 paper
NM_020733.2
p.S511S
c.1533A>G
1 paper
NM_020733.2
p.S305P
c.913T>C
1 paper
NM_020733.2
p.S213I
c.638G>T
1 paper
NM_020733.2
p.L208H
c.623T>A
1 paper
NM_020733.2
p.Y535Y
c.1605C>T
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