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

12 papers

NM_005861.4

p.M211I

c.633G>A

Surrounding Variants

11 papers

NM_005861.4

p.M211I

c.633G>C

11 papers

NM_005861.4

p.M211I

c.633G>T

2 papers

NM_005861.4

p.M211T

c.632T>C

2 papers

NM_005861.4

p.D212G

c.635A>G

1 paper

NM_005861.4

p.A209E

c.626C>A

2 papers

NM_005861.4

p.S216insFs

c.646dupT

1 paper

NM_005861.4

p.L214F

c.640C>T

7 papers

NM_005861.4

p.Y207*

c.621C>A

9 papers

NM_005861.4

p.Y207*

c.621C>G

1 paper

NM_005861.4

p.F215L

c.645T>G

4 papers

NM_005861.4

p.S216fs

c.646_647fs

2 papers

NM_005861.4

p.Q217*

c.649C>T