Varaico: Literature-Extracted Genetic Variants

Gene:HEG1
Variant:p.F602S

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.F602S
c.1805T>C
Surrounding Variants
1 paper
NM_020733.2
p.H595Q
c.1785T>G
1 paper
NM_020733.2
p.H595Q
c.1785T>A
1 paper
NM_020733.2
p.S613S
c.1839C>A
1 paper
NM_020733.2
p.Y618H
c.1852T>C
1 paper
NM_020733.2
p.T623A
c.1867A>G
1 paper
NM_020733.2
p.P643L
c.1928C>T
1 paper
NM_020733.2
p.S646L
c.1937C>T
1 paper
NM_020733.2
p.D658Y
c.1972G>T
1 paper
NM_020733.2
p.D658A
c.1973A>C
1 paper
NM_020733.2
p.S660_S661ins6
c.1980_1981ins18
1 paper
NM_020733.2
p.A542T
c.1624G>A
1 paper
NM_020733.2
p.R539C
c.1615C>T
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