Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP5L
Variant:p.I308V

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
Selected Variant
1 paper
NM_030645.3
p.I308V
c.922A>G
Surrounding Variants
1 paper
NM_030645.3
p.L316fs
c.946_947fs
1 paper
NM_030645.3
p.L316_G319delFs
c.947_957del11
1 paper
NM_030645.3
p.G325A
c.974G>C
1 paper
NM_030645.3
p.R339H
c.1016G>A
1 paper
NM_030645.3
p.T340M
c.1019C>T
1 paper
NM_030645.3
p.L345P
c.1034T>C
1 paper
NM_030645.3
p.S258S
c.774C>T
1 paper
NM_030645.3
p.V361I
c.1081G>A
1 paper
NM_030645.3
p.R371W
c.1111C>T
1 paper
NM_030645.3
p.H387H
c.1161C>T
1 paper
NM_030645.3
p.R217W
c.649A>T
1 paper
NM_030645.3
p.R199W
c.595C>T
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