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.G17A

c.50G>C

Surrounding Variants

2 papers

NM_005861.4

p.G16D

c.47G>A

1 paper

NM_005861.4

p.S19S

c.57C>T

1 paper

NM_005861.4

p.P20P

c.60C>G

1 paper

NM_005861.4

p.G14_K22del9

c.40_65del27

1 paper

NM_005861.4

p.K22delFs

c.65delA

1 paper

NM_005861.4

p.K22fs

c.64_65fs

1 paper

NM_005861.4

p.K22R

c.65A>G

1 paper

NM_005861.4

p.R12Q

c.35G>A

1 paper

NM_005861.4

p.R12P

c.35G>C

3 papers

NM_005861.4

p.S23C

c.67A>T

1 paper

NM_005861.4

p.R12_G16del5

c.34_47del15

1 paper

NM_005861.4

p.S23I

c.68G>T