Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.L142V

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.L142V
c.424C>G
Surrounding Variants
1 paper
NM_213622.4
p.Q139R
c.416A>G
2 papers
NM_213622.4
p.I138fs
c.412_413fs
5 papers
NM_213622.4
p.A137delFs
c.411delC
2 papers
NM_213622.4
p.Q155H
c.465G>C
2 papers
NM_213622.4
p.Q155H
c.465G>T
1 paper
NM_213622.4
p.K126fs
c.376_377fs
1 paper
NM_213622.4
p.K125_K126Splc
c.376-1G>A
1 paper
NM_213622.4
p.E167K
c.499G>A
1 paper
NM_213622.4
p.R170Q
c.509G>A
1 paper
NM_213622.4
p.E173*
c.517G>T
1 paper
NM_213622.4
p.L174R
c.521T>G
7 papers
NM_213622.4
p.R178*
c.532C>T
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