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

2 papers

NM_005861.4

p.S248N

c.743G>A

Surrounding Variants

1 paper

NM_005861.4

p.S248T

c.743G>C

1 paper

NM_005861.4

p.S248I

c.743G>T

1 paper

NM_005861.4

p.G249insFs

c.746_747dupGC

1 paper

NM_005861.4

p.P247_S248delFs

c.741_742delCA

2 papers

NM_005861.4

p.G249V

c.746G>T

26 papers

NM_005861.4

p.T246M

c.737C>T

1 paper

NM_005861.4

p.T246A

c.736A>G

1 paper

NM_005861.4

p.I245_T246ins1

c.735_736insGGG

1 paper

NM_005861.4

p.T251I

c.752C>T

1 paper

NM_005861.4

p.Y252S

c.755A>C

2 papers

NM_005861.4

p.C244Y

c.731G>A

1 paper

NM_005861.4

p.C244S

c.731G>C