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.Q262delFs

c.785delA

Surrounding Variants

1 paper

NM_005861.4

p.Q262H

c.786G>C

1 paper

NM_005861.4

p.Q262H

c.786G>T

44 papers

NM_005861.4

p.H260Q

c.780C>A

44 papers

NM_005861.4

p.H260Q

c.780C>G

1 paper

NM_005861.4

p.E259*

c.775G>T

2 papers

NM_005861.4

p.E258K

c.772G>A

1 paper

NM_005861.4

p.I257N

c.770T>A

1 paper

NM_005861.4

p.I257V

c.769A>G

1 paper

NM_005861.4

p.R254H

c.761G>A

1 paper

NM_005861.4

p.R254C

c.760C>T

1 paper

NM_005861.4

p.D253N

c.757G>A

1 paper

NM_005861.4

p.Y252S

c.755A>C