Varaico: Literature-Extracted Genetic Variants

Gene:HEG1
Variant:p.A697T

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.A697T
c.2089G>A
Surrounding Variants
1 paper
NM_020733.2
p.P720R
c.2159C>G
1 paper
NM_020733.2
p.S670ins6
c.2009_2010ins18
2 papers
NM_020733.2
p.S668ins6
c.2003_2004ins18
3 papers
NM_020733.2
p.S662_S668ins2
c.1986_2003dup18
1 paper
NM_020733.2
p.S668S
c.2004T>C
1 paper
NM_020733.2
p.S668ins6
c.2002_2003ins18
1 paper
NM_020733.2
p.S665_S666delins
c.1995_1996delinsTG
1 paper
NM_020733.2
p.S660_S661ins6
c.1980_1981ins18
1 paper
NM_020733.2
p.Q735P
c.2204A>C
1 paper
NM_020733.2
p.D658A
c.1973A>C
1 paper
NM_020733.2
p.D658Y
c.1972G>T
1 paper
NM_020733.2
p.S646L
c.1937C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."