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.S163P

c.487T>C

Surrounding Variants

1 paper

NM_005861.4

p.Y164F

c.491A>T

9 papers

NM_005861.4

p.L165F

c.493C>T

1 paper

NM_005861.4

p.L165R

c.494T>G

4 papers

NM_005861.4

p.L168F

c.502C>T

1 paper

NM_005861.4

p.R154L

c.461G>T

3 papers

NM_005861.4

p.R154C

c.460C>T

1 paper

NM_005861.4

p.E172*

c.514G>T

1 paper

NM_005861.4

p.R153Q

c.458G>A

2 papers

NM_005861.4

p.R173H

c.518G>A

1 paper

NM_005861.4

p.E174*

c.520G>T

1 paper

NM_005861.4

p.R175G

c.523A>G

1 paper

NM_005861.4

p.R175K

c.524G>A