Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.R38S

STAMBP

118 papers

RefSeq Summary

Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for in...

Pfam Domains

USP8_dimeraa 8–117UCSCUSP8 dimerisation domain
JABaa 252–361UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease

Gene Aliases

HGNC Name

STAM binding protein

HGNC Alias Symbol

AMSH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_213622.4
p.R38S
c.112C>A
Surrounding Variants
9 papers
NM_213622.4
p.R38C
c.112C>T
1 paper
NM_213622.4
p.R35Q
c.104G>A
1 paper
NM_213622.4
p.E42A
c.125A>C
6 papers
NM_213622.4
p.E42G
c.125A>G
1 paper
NM_213622.4
p.I43V
c.127A>G
1 paper
NM_213622.4
p.P32delFs
c.96delA
1 paper
NM_213622.4
p.R45*
c.133C>T
1 paper
NM_213622.4
p.R45Q
c.134G>A
1 paper
NM_213622.4
p.D30A
c.89A>C
1 paper
NM_213622.4
p.M46T
c.137T>C
1 paper
NM_213622.4
p.E53A
c.158A>C
1 paper
NM_213622.4
p.H58Q
c.174T>A
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