Varaico: Literature-Extracted Genetic Variants

Gene:HEG1
Variant:p.G998G

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
2 papers
NM_020733.2
p.G998G
c.2994C>T
Surrounding Variants
1 paper
NM_020733.2
p.V1001L
c.3001G>C
1 paper
NM_020733.2
p.H996Y
c.2986C>T
1 paper
NM_020733.2
p.A1002insFs
c.3004_3005ins5
1 paper
NM_020733.2
p.A1002fs
c.3004_3005fs
1 paper
NM_020733.2
p.R1007fs
c.3019_3020fs
2 papers
NM_020733.2
p.M1039T
c.3116T>C
1 paper
NM_020733.2
p.V970D
c.2909T>A
1 paper
NM_020733.2
p.T952A
c.2854A>G
1 paper
NM_020733.2
p.V933I
c.2797G>A
3 papers
NM_020733.2
p.T912S
c.2735C>G
3 papers
NM_020733.2
p.T912S
c.2734A>T
1 paper
NM_020733.2
p.I907T
c.2720T>C
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