Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2NLA

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
1–12 of 64 variants
16 papers
NM_203458.6
p.T158I
c.473C>T
16 papers
NM_203458.6
p.T196S
c.586A>T
16 papers
NM_203458.6
p.T196S
c.587C>G
15 papers
NM_203458.6
p.S67P
c.199T>C
15 papers
NM_203458.6
p.P188H
c.563C>A
14 papers
NM_203458.6
p.S181R
c.541A>C
14 papers
NM_203458.6
p.S181R
c.543C>G
14 papers
NM_203458.6
p.S181R
c.543C>A
13 papers
NM_203458.6
p.P113L
c.338C>T
5 papers
NM_203458.6
p.R74*
c.220C>T
4 papers
NM_203458.6
p.Q95Q
c.285A>G
4 papers
NM_203458.6
p.D143N
c.427G>A
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