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.W147*

c.441G>A

Surrounding Variants

10 papers

NM_005861.4

p.W147C

c.441G>C

11 papers

NM_005861.4

p.W147C

c.441G>T

2 papers

NM_005861.4

p.W147*

c.440G>A

1 paper

NM_005861.4

p.S149fs

c.445_446fs

29 papers

NM_005861.4

p.K145Q

c.433A>C

1 paper

NM_005861.4

p.K145E

c.433A>G

1 paper

NM_005861.4

p.K145*

c.433A>T

1 paper

NM_005861.4

p.K144T

c.431A>C

8 papers

NM_005861.4

p.K144*

c.430A>T

1 paper

NM_005861.4

p.A142_W147delins

c.426_441delinsT

2 papers

NM_005861.4

p.A142V

c.425C>T

7 papers

NM_005861.4

p.K145del1

c.433_435delAAG