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.G101R

c.301G>C

Surrounding Variants

2 papers

NM_005861.4

p.G101R

c.301G>A

1 paper

NM_005861.4

p.L100delFs

c.298delC

1 paper

NM_005861.4

p.F99delFs

c.295delT

1 paper

NM_005861.4

p.C103Y

c.308G>A

1 paper

NM_005861.4

p.C103*

c.309C>A

1 paper

NM_005861.4

p.C103W

c.309C>G

1 paper

NM_005861.4

p.H97Q

c.291C>A

1 paper

NM_005861.4

p.A96G

c.287C>G

1 paper

NM_005861.4

p.E106G

c.317A>G

1 paper

NM_005861.4

p.K95R

c.284A>G

1 paper

NM_005861.4

p.M107L

c.319A>T

1 paper

NM_005861.4

p.E108K

c.322G>A