Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.E124Q

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.E124Q
c.370G>C
Surrounding Variants
1 paper
NM_213622.4
p.E117E
c.351A>G
1 paper
NM_213622.4
p.E117A
c.350A>C
1 paper
NM_213622.4
p.Y114F
c.341A>T
1 paper
NM_213622.4
p.L106fs
c.316_317fs
1 paper
NM_213622.4
p.E105Q
c.313G>C
1 paper
NM_213622.4
p.E104A
c.311A>C
8 papers
NM_213622.4
p.F100Y
c.299T>A
2 papers
NM_213622.4
p.A99G
c.296C>G
1 paper
NM_213622.4
p.K96del1
c.286_287delAAG
1 paper
NM_213622.4
p.L95I
c.283T>A
1 paper
NM_213622.4
p.K94R
c.281A>G
6 papers
NM_213622.4
p.K93_K94Splc
c.279+5G>T
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