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.R66P

c.197G>C

Surrounding Variants

1 paper

NM_005861.4

p.N65K

c.195C>A

1 paper

NM_005861.4

p.N65K

c.195C>G

4 papers

NM_005861.4

p.A67T

c.199G>A

16 papers

NM_005861.4

p.N65S

c.194A>G

1 paper

NM_005861.4

p.A67V

c.200C>T

1 paper

NM_005861.4

p.T64delFs

c.192delC

1 paper

NM_005861.4

p.Y63*

c.189C>A

2 papers

NM_005861.4

p.C69Y

c.206G>A

1 paper

NM_005861.4

p.V61V

c.183G>C

1 paper

NM_005861.4

p.K72R

c.215A>G

2 papers

NM_005861.4

p.M73L

c.217A>C

2 papers

NM_005861.4

p.Q74P

c.221A>C