Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.L179P

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.L179P
c.536T>C
Surrounding Variants
7 papers
NM_213622.4
p.R178*
c.532C>T
1 paper
NM_213622.4
p.V182I
c.544G>A
1 paper
NM_213622.4
p.E184V
c.551A>T
1 paper
NM_213622.4
p.L174R
c.521T>G
1 paper
NM_213622.4
p.E173*
c.517G>T
1 paper
NM_213622.4
p.R170Q
c.509G>A
1 paper
NM_213622.4
p.E167K
c.499G>A
1 paper
NM_213622.4
p.G193R
c.577G>C
2 papers
NM_213622.4
p.Q155H
c.465G>C
2 papers
NM_213622.4
p.Q155H
c.465G>T
2 papers
NM_213622.4
p.S204P
c.610T>C
1 paper
NM_213622.4
p.T210T
c.630C>T
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