Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.Q323R

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
3 papers
NM_213622.4
p.Q323R
c.968A>G
Surrounding Variants
1 paper
NM_213622.4
p.L321F
c.961C>T
1 paper
NM_213622.4
p.E317A
c.950A>C
1 paper
NM_213622.4
p.E316A
c.947A>C
1 paper
NM_213622.4
p.E316K
c.946G>A
1 paper
NM_213622.4
p.N315K
c.945C>A
2 papers
NM_213622.4
p.N315K
c.945C>G
1 paper
NM_213622.4
p.G332A
c.995G>C
10 papers
NM_213622.4
p.T313I
c.938C>T
1 paper
NM_213622.4
p.T313A
c.937A>G
1 paper
NM_213622.4
p.I334V
c.1000A>G
1 paper
NM_213622.4
p.H335Q
c.1005T>A
1 paper
NM_213622.4
p.H335Q
c.1005T>G
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