Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2NLA
Variant:p.S181R

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
14 papers
NM_203458.6
p.S181R
c.543C>A
Surrounding Variants
14 papers
NM_203458.6
p.S181R
c.543C>G
14 papers
NM_203458.6
p.S181R
c.541A>C
1 paper
NM_203458.6
p.C186S
c.556T>A
1 paper
NM_203458.6
p.C186S
c.557G>C
1 paper
NM_203458.6
p.G176S
c.526G>A
15 papers
NM_203458.6
p.P188H
c.563C>A
1 paper
NM_203458.6
p.C191S
c.571T>A
1 paper
NM_203458.6
p.C191S
c.572G>C
2 papers
NM_203458.6
p.N193S
c.578A>G
16 papers
NM_203458.6
p.T196S
c.586A>T
1 paper
NM_203458.6
p.T196I
c.587C>T
16 papers
NM_203458.6
p.T196S
c.587C>G
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."