Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.K378fs

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
4 papers
NM_213622.4
p.K378fs
c.1132_1133fs
Surrounding Variants
2 papers
NM_213622.4
p.K378delFs
c.1134delA
2 papers
NM_213622.4
p.K378_T380delFs
c.1134_1138del5
3 papers
NM_213622.4
p.E373Splc
c.1119-1G>T
1 paper
NM_213622.4
p.E373Splc
c.1119-6T>C
9 papers
NM_006463.6
p.E373Splc
c.1119-6T>G
1 paper
NM_213622.4
p.E373Splc
c.1119-7A>G
1 paper
NM_213622.4
p.C406_S407Splc
c.1218+5G>T
2 papers
NM_213622.4
p.T351A
c.1051A>G
7 papers
NM_213622.4
p.D348A
c.1043A>C
1 paper
NM_213622.4
p.D348N
c.1042G>A
1 paper
NM_213622.4
p.V347I
c.1039G>A
1 paper
NM_213622.4
p.S345S
c.1035C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."