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.K30N

c.90G>T

Surrounding Variants

2 papers

NM_005861.4

p.K30N

c.90G>C

1 paper

NM_005861.4

p.K30R

c.89A>G

1 paper

NM_005861.4

p.K30delFs

c.90delG

1 paper

NM_005861.4

p.E31E

c.93G>A

7 papers

NM_005861.4

p.G33S

c.97G>A

12 papers

NM_005861.4

p.E28K

c.82G>A

1 paper

NM_005861.4

p.N34S

c.101A>G

1 paper

NM_005861.4

p.Q27E

c.79C>G

1 paper

NM_005861.4

p.Q27*

c.79C>T

4 papers

NM_005861.4

p.R35S

c.103C>A

2 papers

NM_005861.4

p.L36P

c.107T>C

1 paper

NM_005861.4

p.P24R

c.71C>G