Varaico: Literature-Extracted Genetic Variants

Gene:NYAP2
Variant:p.M248L

NYAP2

92 papers

Pfam Domains

NYAP_Naa 56–431UCSCNeuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
NYAP_Caa 467–719UCSCNeuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter

Gene Aliases

HGNC Name

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2

HGNC Previous Symbol

KIAA1486

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371273.1
p.M248L
c.742A>C
Surrounding Variants
1 paper
NM_001371273.1
p.M248L
c.742A>T
1 paper
NM_001371273.1
p.E242K
c.724G>A
1 paper
NM_001371273.1
p.F256S
c.767T>C
1 paper
NM_001371273.1
p.E239*
c.715G>T
1 paper
NM_001371273.1
p.G236R
c.706G>A
1 paper
NM_001371273.1
p.G236R
c.706G>C
1 paper
NM_001371273.1
p.A235V
c.704C>T
1 paper
NM_001371273.1
p.S229F
c.686C>T
1 paper
NM_001371273.1
p.D282D
c.846C>T
1 paper
NM_001371273.1
p.I212M
c.636C>G
1 paper
NM_001371273.1
p.P299H
c.896C>A
1 paper
NM_001371273.1
p.T300M
c.899C>T
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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."