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.D134A

c.401A>C

Surrounding Variants

1 paper

NM_005861.4

p.D134N

c.400G>A

1 paper

NM_005861.4

p.I135M

c.405C>G

1 paper

NM_005861.4

p.D133Y

c.397G>T

1 paper

NM_005861.4

p.P136S

c.406C>T

1 paper

NM_005861.4

p.A138T

c.412G>A

1 paper

NM_005861.4

p.A138P

c.412G>C

10 papers

NM_005861.4

p.N130I

c.389A>T

2 papers

NM_005861.4

p.A138V

c.413C>T

1 paper

NM_005861.4

p.I141V

c.421A>G

1 paper

NM_005861.4

p.R128delFs

c.382delC

1 paper

NM_005861.4

p.R128delFs

c.382_383delCG

1 paper

NM_005861.4

p.I141M

c.423C>G