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

1–12 of 320 variants

44 papers

NM_005861.4

p.H260Q

c.780C>A

44 papers

NM_005861.4

p.H260Q

c.780C>G

29 papers

NM_005861.4

p.K145Q

c.433A>C

26 papers

NM_005861.4

p.T246M

c.737C>T

16 papers

NM_005861.4

p.N65S

c.194A>G

15 papers

NM_005861.4

p.L123V

c.367C>G

12 papers

NM_005861.4

p.E28K

c.82G>A

12 papers

NM_005861.4

p.M211I

c.633G>A

12 papers

NM_005861.4

p.M240T

c.719T>C

11 papers

NM_005861.4

p.A79D

c.236C>A

11 papers

NM_005861.4

p.W147C

c.441G>T

11 papers

NM_005861.4

p.M211I

c.633G>C