Varaico: Literature-Extracted Genetic Variants

UBR4

296 papers

RefSeq Summary

The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The enco...

Pfam Domains

E3_UBR4_Naa 69–1650UCSCE3 ubiquitin-protein ligase UBR4 N-terminal

zf-UBRaa 1661–1726UCSCPutative zinc finger in N-recognin (UBR box)

UBR4aa 3711–3835UCSCE3 ubiquitin-protein ligase UBR4-like domain

E3_UbLigase_R4aa 4367–5163UCSCE3 ubiquitin-protein ligase UBR4

Gene Aliases

HGNC Name

ubiquitin protein ligase E3 component n-recognin 4

HGNC Previous Symbol

ZUBR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020765.3

p.R5052G

c.15154A>G

Surrounding Variants

1 paper

NM_020765.3

p.E5049V

c.15146A>T

1 paper

NM_020765.3

p.R5055H

c.15164G>A

5 papers

NM_020765.3

p.A5042V

c.15125C>T

1 paper

NM_020765.3

p.V5040I

c.15118G>A

1 paper

NM_020765.3

p.G5034R

c.15100G>C

1 paper

NM_020765.3

p.G5034R

c.15100G>A

1 paper

NM_020765.3

p.W5025R

c.15073T>C

1 paper

NM_020765.3

p.W5025R

c.15073T>A

1 paper

NM_020765.3

p.R5009Q

c.15026G>A

1 paper

NM_020765.3

p.T5003Splc

c.15008+1G>A

1 paper

NM_020765.3

p.T5003insFs

c.15008_15009ins10

1 paper

NM_020765.3

p.L5001P

c.15002T>C