Varaico: Literature-Extracted Genetic Variants

Gene:HEG1
Variant:p.T912S

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.T912S
c.2734A>T
Surrounding Variants
3 papers
NM_020733.2
p.T912S
c.2735C>G
1 paper
NM_020733.2
p.I907T
c.2720T>C
1 paper
NM_020733.2
p.R905L
c.2714G>T
1 paper
NM_020733.2
p.I893M
c.2679C>G
1 paper
NM_020733.2
p.V933I
c.2797G>A
1 paper
NM_020733.2
p.T875S
c.2624C>G
1 paper
NM_020733.2
p.T875S
c.2623A>T
1 paper
NM_020733.2
p.T952A
c.2854A>G
1 paper
NM_020733.2
p.V970D
c.2909T>A
1 paper
NM_020733.2
p.N812K
c.2436C>G
1 paper
NM_020733.2
p.N812K
c.2436C>A
1 paper
NM_020733.2
p.N812D
c.2434A>G
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