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.T5003insFs

c.15008_15009ins10

Surrounding Variants

1 paper

NM_020765.3

p.T5003Splc

c.15008+1G>A

1 paper

NM_020765.3

p.L5001P

c.15002T>C

1 paper

NM_020765.3

p.Y4992*

c.14976C>G

1 paper

NM_020765.3

p.Y4992*

c.14976C>A

1 paper

NM_020765.3

p.P4991P

c.14973G>A

1 paper

NM_020765.3

p.E4984K

c.14950G>A

1 paper

NM_020765.3

p.R4983Q

c.14948G>A

1 paper

NM_020765.3

p.G4981fs

c.14941_14942fs

1 paper

NM_020765.3

p.G4979delFs

c.14937delG

1 paper

NM_020765.3

p.G4979S

c.14935G>A

1 paper

NM_020765.3

p.E4971D

c.14913G>T

1 paper

NM_020765.3

p.E4971D

c.14913G>C