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.D82Y

c.244G>T

Surrounding Variants

1 paper

NM_005861.4

p.D82delFs

c.245delA

1 paper

NM_005861.4

p.L80V

c.238C>G

11 papers

NM_005861.4

p.A79D

c.236C>A

8 papers

NM_005861.4

p.A79T

c.235G>A

2 papers

NM_005861.4

p.A79P

c.235G>C

1 paper

NM_005861.4

p.R85H

c.254G>A

2 papers

NM_005861.4

p.Q78E

c.232C>G

1 paper

NM_005861.4

p.L89P

c.266T>C

2 papers

NM_005861.4

p.Q74P

c.221A>C

1 paper

NM_005861.4

p.D90Y

c.268G>T

2 papers

NM_005861.4

p.M73L

c.217A>C

1 paper

NM_005861.4

p.G91W

c.271G>T