Varaico: Literature-Extracted Genetic Variants

Gene:HEG1
Variant:p.N812K

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
1 paper
NM_020733.2
p.N812K
c.2436C>A
Surrounding Variants
1 paper
NM_020733.2
p.N812K
c.2436C>G
1 paper
NM_020733.2
p.N812D
c.2434A>G
1 paper
NM_020733.2
p.A808T
c.2422G>A
1 paper
NM_020733.2
p.S800F
c.2399C>T
1 paper
NM_020733.2
p.S795L
c.2384C>T
1 paper
NM_020733.2
p.T775I
c.2324C>T
1 paper
NM_020733.2
p.Q774R
c.2321A>G
1 paper
NM_020733.2
p.Q774P
c.2321A>C
1 paper
NM_020733.2
p.L770F
c.2308C>T
1 paper
NM_020733.2
p.M769V
c.2305A>G
1 paper
NM_020733.2
p.P754L
c.2261C>T
1 paper
NM_020733.2
p.T875S
c.2623A>T
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