Varaico: Literature-Extracted Genetic Variants

Gene:SAP30BP
Variant:p.P269P

SAP30BP

26 papers

Pfam Domains

HCNGPaa 119–213UCSCHCNGP-like protein

Gene Aliases

HGNC Name

SAP30 binding protein

HGNC Alias Symbols

HCNGP; HTRG; HTRP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013260.8
p.P269P
c.807C>T
Surrounding Variants
1 paper
NM_013260.8
p.A267D
c.800C>A
1 paper
NM_013260.8
p.A267G
c.800C>G
1 paper
NM_013260.8
p.V284_T285delFs
c.852_855del4
1 paper
NM_013260.8
p.T285T
c.855C>T
2 papers
NM_013260.8
p.G290S
c.868G>A
1 paper
NM_013260.8
p.V295I
c.883G>A
1 paper
NM_013260.8
p.S297C
c.890C>G
1 paper
NM_013260.8
p.K229N
c.687A>C
1 paper
NM_013260.8
p.K229N
c.687A>T
1 paper
NM_013260.8
p.K215insFs
c.643dupA
1 paper
NM_013260.8
p.A214fs
c.640_641fs
1 paper
NM_013260.8
p.E212G
c.635A>G
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