Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.R424*

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
7 papers
NM_213622.4
p.R424*
c.1270C>T
Surrounding Variants
2 papers
NM_213622.4
p.R424Q
c.1271G>A
1 paper
NM_213622.4
p.R424R
c.1272A>G
1 paper
NM_213622.4
p.T419A
c.1255A>G
1 paper
NM_213622.4
p.V418fs
c.1252_1253fs
1 paper
NM_213622.4
p.A417insFs
c.1250_1251ins4
1 paper
NM_213622.4
p.C406_S407Splc
c.1218+5G>T
4 papers
NM_213622.4
p.K378fs
c.1132_1133fs
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
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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."