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

6 papers

NM_005861.4

p.Y230fs

c.688_689fs

Surrounding Variants

1 paper

NM_005861.4

p.Y230fs

c.688_689fs

1 paper

NM_005861.4

p.Y230delFs

c.690delC

8 papers

NM_005861.4

p.Y230_L231delFs

c.689_692del4

1 paper

NM_005861.4

p.L231delFs

c.691_692delCT

2 papers

NM_005861.4

p.L231V

c.691C>G

1 paper

NM_005861.4

p.L231fs

c.691_692fs

2 papers

NM_005861.4

p.C232_G233del0

c.694_699del6

1 paper

NM_005861.4

p.P228fs

c.682_683fs

7 papers

NM_005861.4

p.P228S

c.682C>T

3 papers

NM_005861.4

p.C232G

c.694T>G

1 paper

NM_005861.4

p.I227fs

c.679_680fs

1 paper

NM_005861.4

p.I227V

c.679A>G