Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2NLA
Variant:p.T196S

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.T196S
c.587C>G
Surrounding Variants
1 paper
NM_203458.6
p.T196I
c.587C>T
16 papers
NM_203458.6
p.T196S
c.586A>T
1 paper
NM_203458.6
p.C197S
c.589T>A
1 paper
NM_203458.6
p.C197S
c.590G>C
2 papers
NM_203458.6
p.N193S
c.578A>G
1 paper
NM_203458.6
p.C191S
c.572G>C
1 paper
NM_203458.6
p.C191S
c.571T>A
1 paper
NM_203458.6
p.T204S
c.610A>T
1 paper
NM_203458.6
p.T204S
c.611C>G
15 papers
NM_203458.6
p.P188H
c.563C>A
1 paper
NM_203458.6
p.C186S
c.557G>C
1 paper
NM_203458.6
p.C186S
c.556T>A
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