Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP5L

SH3BP5L

26 papers

Pfam Domains

SH3BP5aa 54–281UCSCSH3 domain-binding protein 5 (SH3BP5)

Gene Aliases

HGNC Name

SH3 binding domain protein 5 like

HGNC Alias Symbol

KIAA1720

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
1 paper
NM_030645.3
p.E26G
c.77A>G
1 paper
NM_030645.3
p.G39S
c.115G>A
1 paper
NM_030645.3
p.Q61K
c.181C>A
1 paper
NM_030645.3
p.E62G
c.185A>G
1 paper
NM_030645.3
p.A84P
c.250G>C
1 paper
NM_030645.3
p.R90S
c.270G>T
1 paper
NM_030645.3
p.R90S
c.270G>C
1 paper
NM_030645.3
p.R114Q
c.341G>A
1 paper
NM_030645.3
p.R136Q
c.407G>A
1 paper
NM_030645.3
p.R139G
c.415C>G
1 paper
NM_030645.3
p.V141I
c.421G>A
1 paper
NM_030645.3
p.N145N
c.435C>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."