Varaico: Literature-Extracted Genetic Variants

Gene:HEG1
Variant:p.A27del1

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
3 papers
NM_020733.2
p.A27del1
c.79_80delGGC
Surrounding Variants
3 papers
NM_020733.2
p.A26_A27del1
c.78_80delGCC
1 paper
NM_020733.2
p.L23_P24ins1
c.69_70insATG
1 paper
NM_020733.2
p.L23M
c.67C>A
1 paper
NM_020733.2
p.A50T
c.148G>A
1 paper
NM_020733.2
p.R5H
c.14G>A
1 paper
NM_020733.2
p.Q55L
c.164A>T
1 paper
NM_020733.2
p.P69_R70insATG
c.205_209ins9
2 papers
NM_020733.2
p.P78_P80del3
c.232_239del9
3 papers
NM_020733.2
p.R101S
c.303A>T
3 papers
NM_020733.2
p.R101S
c.303A>C
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