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.E238E

c.714G>A

Surrounding Variants

1 paper

NM_005861.4

p.L239insFs

c.716_717insT

1 paper

NM_005861.4

p.L239L

c.715C>T

6 papers

NM_005861.4

p.E238*

c.712G>T

1 paper

NM_005861.4

p.F237Y

c.710T>A

1 paper

NM_005861.4

p.F237S

c.710T>C

12 papers

NM_005861.4

p.M240T

c.719T>C

4 papers

NM_005861.4

p.R241G

c.721C>G

8 papers

NM_005861.4

p.R241W

c.721C>T

11 papers

NM_005861.4

p.S236T

c.707G>C

1 paper

NM_005861.4

p.R241P

c.722G>C

3 papers

NM_005861.4

p.E242K

c.724G>A

1 paper

NM_005861.4

p.K234R

c.701A>G