Varaico: Literature-Extracted Genetic Variants

STUB1

396 papers

RefSeq Summary

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protei...

Pfam Domains

ANAPC3aa 39–120UCSCAnaphase-promoting complex, cyclosome, subunit 3

CHIP_TPR_Naa 142–225UCSCCHIP N-terminal tetratricopeptide repeat domain

U-boxaa 227–299UCSCU-box domain

Gene Aliases

HGNC Name

STIP1 homology and U-box containing protein 1

HGNC Alias Symbols

UBOX1; CHIP; SDCCAG7; HSPABP2; NY-CO-7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005861.4

p.A52G

c.155C>G

Surrounding Variants

1 paper

NM_005861.4

p.R51_I53delins

c.152_158delinsCAGC

4 papers

NM_005861.4

p.I53T

c.158T>C

1 paper

NM_005861.4

p.I53_T54Splc

c.159+1G>A

10 papers

NM_005861.4

p.Y49C

c.146A>G

1 paper

NM_005861.4

p.I53_T54Splc

c.159+5G>A

2 papers

NM_005861.4

p.C48Y

c.143G>A

3 papers

NM_005861.4

p.A46P

c.136G>C

2 papers

NM_005861.4

p.A46insFs

c.136dupG

1 paper

NM_005861.4

p.A45V

c.134C>T

2 papers

NM_005861.4

p.K41R

c.122A>G

5 papers

NM_005861.4

p.F37L

c.111C>A

5 papers

NM_005861.4

p.F37L

c.111C>G