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

3 papers

NM_005861.4

p.A113D

c.338C>A

Surrounding Variants

1 paper

NM_005861.4

p.N116Y

c.346A>T

1 paper

NM_005861.4

p.Y110fs

c.328_329fs

1 paper

NM_005861.4

p.S109_Y110insFs

c.327_328insCT

1 paper

NM_005861.4

p.E108V

c.323A>T

1 paper

NM_005861.4

p.E108K

c.322G>A

10 papers

NM_005861.4

p.R119*

c.355C>T

1 paper

NM_005861.4

p.M107L

c.319A>T

1 paper

NM_005861.4

p.E106G

c.317A>G

1 paper

NM_005861.4

p.A120V

c.359C>T

1 paper

NM_005861.4

p.A120Splc

c.358+1G>A

2 papers

NM_005861.4

p.A120Splc

c.358+2T>C

1 paper

NM_005861.4

p.A120Splc

c.358+2T>G