Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2NLA
Variant:p.S67P

NOTCH2NLA

95 papers

Pfam Domains

EGFaa 29–61UCSCEGF-like domain
EGFaa 70–102UCSCEGF-like domain
EGFaa 109–139UCSCEGF-like domain
EGF_CAaa 143–182UCSCCalcium-binding EGF domain
hEGFaa 191–212UCSCHuman growth factor-like EGF

Gene Aliases

HGNC Name

notch 2 N-terminal like A

HGNC Previous Symbol

NOTCH2NL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_203458.6
p.S67P
c.199T>C
Surrounding Variants
1 paper
NM_203458.6
p.H68P
c.203A>C
3 papers
NM_203458.6
p.C70R
c.208T>C
1 paper
NM_203458.6
p.S73delFs
c.218delG
5 papers
NM_203458.6
p.R74*
c.220C>T
1 paper
NM_203458.6
p.R74Q
c.221G>A
3 papers
NM_203458.6
p.R52R
c.156A>G
1 paper
NM_203458.6
p.R52Q
c.155G>A
1 paper
NM_203458.6
p.R52*
c.154C>T
1 paper
NM_203458.6
p.C82*
c.246C>A
1 paper
NM_203458.6
p.T50T
c.150G>A
3 papers
NM_203458.6
p.T50M
c.149C>T
1 paper
NM_203458.6
p.T50K
c.149C>A
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."