Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2NLA
Variant:p.Q95Q

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
4 papers
NM_203458.6
p.Q95Q
c.285A>G
Surrounding Variants
1 paper
NM_203458.6
p.T93delFs
c.278delG
1 paper
NM_203458.6
p.R87L
c.260G>T
1 paper
NM_203458.6
p.R87Q
c.260G>A
1 paper
NM_203458.6
p.S86C
c.256A>T
1 paper
NM_203458.6
p.C82*
c.246C>A
1 paper
NM_203458.6
p.R74Q
c.221G>A
5 papers
NM_203458.6
p.R74*
c.220C>T
1 paper
NM_203458.6
p.S73delFs
c.218delG
3 papers
NM_203458.6
p.C70R
c.208T>C
1 paper
NM_203458.6
p.H68P
c.203A>C
15 papers
NM_203458.6
p.S67P
c.199T>C
3 papers
NM_203458.6
p.R52R
c.156A>G
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