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.D226V

c.677A>T

Surrounding Variants

3 papers

NM_005861.4

p.D226_I227delFs

c.678_679delCA

1 paper

NM_005861.4

p.I227fs

c.679_680fs

1 paper

NM_005861.4

p.I227V

c.679A>G

3 papers

NM_005861.4

p.I227fs

c.679_680fs

7 papers

NM_005861.4

p.R225*

c.673C>T

1 paper

NM_005861.4

p.P228fs

c.682_683fs

7 papers

NM_005861.4

p.P228S

c.682C>T

1 paper

NM_005861.4

p.K224K

c.672G>A

1 paper

NM_005861.4

p.K224delFs

c.671delA

8 papers

NM_005861.4

p.Y230_L231delFs

c.689_692del4

1 paper

NM_005861.4

p.Y230fs

c.688_689fs

6 papers

NM_005861.4

p.Y230fs

c.688_689fs