Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2NLA
Variant:p.T158I

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
16 papers
NM_203458.6
p.T158I
c.473C>T
Surrounding Variants
1 paper
NM_203458.6
p.G157S
c.469G>A
1 paper
NM_203458.6
p.G156G
c.468T>C
1 paper
NM_203458.6
p.H152P
c.455A>C
1 paper
NM_203458.6
p.D143E
c.429T>G
1 paper
NM_203458.6
p.D143E
c.429T>A
4 papers
NM_203458.6
p.D143N
c.427G>A
1 paper
NM_203458.6
p.G176S
c.526G>A
14 papers
NM_203458.6
p.S181R
c.541A>C
1 paper
NM_203458.6
p.F135V
c.403T>G
14 papers
NM_203458.6
p.S181R
c.543C>G
14 papers
NM_203458.6
p.S181R
c.543C>A
1 paper
NM_203458.6
p.C186S
c.556T>A
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