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.R173H

c.518G>A

Surrounding Variants

1 paper

NM_005861.4

p.E174*

c.520G>T

1 paper

NM_005861.4

p.E172*

c.514G>T

1 paper

NM_005861.4

p.R175G

c.523A>G

1 paper

NM_005861.4

p.R175K

c.524G>A

3 papers

NM_005861.4

p.R175Splc

c.524+1G>A

1 paper

NM_005861.4

p.R175S

c.525G>C

1 paper

NM_005861.4

p.R175S

c.525G>T

1 paper

NM_005861.4

p.R175Splc

c.524+5G>C

4 papers

NM_005861.4

p.L168F

c.502C>T

1 paper

NM_005861.4

p.L165R

c.494T>G

9 papers

NM_005861.4

p.L165F

c.493C>T

1 paper

NM_005861.4

p.Y164F

c.491A>T