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.R241P

c.722G>C

Surrounding Variants

4 papers

NM_005861.4

p.R241G

c.721C>G

8 papers

NM_005861.4

p.R241W

c.721C>T

3 papers

NM_005861.4

p.E242K

c.724G>A

12 papers

NM_005861.4

p.M240T

c.719T>C

10 papers

NM_005861.4

p.P243L

c.728C>T

NM_001293197.2

p.P171L

c.512C>T

1 paper

NM_005861.4

p.L239insFs

c.716_717insT

1 paper

NM_005861.4

p.L239L

c.715C>T

1 paper

NM_005861.4

p.P243P

c.729G>A

1 paper

NM_005861.4

p.E238E

c.714G>A

4 papers

NM_005861.4

p.C244fs

c.730_731fs

3 papers

NM_005861.4

p.C244delFs

c.731_732delGC

2 papers

NM_005861.4

p.C244Y

c.731G>A