Varaico: Literature-Extracted Genetic Variants

Gene:HEG1

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
1–12 of 113 variants
3 papers
NM_020733.2
p.A26_A27del1
c.78_80delGCC
3 papers
NM_020733.2
p.A27del1
c.79_80delGGC
3 papers
NM_020733.2
p.R101S
c.303A>T
3 papers
NM_020733.2
p.R101S
c.303A>C
3 papers
NM_020733.2
p.S662_S668ins2
c.1986_2003dup18
3 papers
NM_020733.2
p.T912S
c.2734A>T
3 papers
NM_020733.2
p.T912S
c.2735C>G
2 papers
NM_020733.2
p.P78_P80del3
c.232_239del9
2 papers
NM_020733.2
p.S400F
c.1199C>T
2 papers
NM_020733.2
p.F602S
c.1805T>C
2 papers
NM_020733.2
p.S668ins6
c.2003_2004ins18
2 papers
NM_020733.2
p.G998G
c.2994C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."