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.P2802delFs

c.8406delG

Surrounding Variants

1 paper

NM_020765.3

p.P2802fs

c.8404_8405fs

1 paper

NM_020765.3

p.M2803fs

c.8407_8408fs

1 paper

NM_020765.3

p.P2802H

c.8405C>A

1 paper

NM_020765.3

p.F2800_P2801delins

c.8400_8401delinsAT

1 paper

NM_020765.3

p.A2795T

c.8383G>A

1 paper

NM_020765.3

p.E2817K

c.8449G>A

1 paper

NM_020765.3

p.G2785V

c.8354G>T

1 paper

NM_020765.3

p.G2830Splc

c.8488+3A>G

1 paper

NM_020765.3

p.E2768G

c.8303A>G

1 paper

NM_020765.3

p.G2745A

c.8234G>C

1 paper

NM_020765.3

p.S2834_A2835insFs

c.8502_8503insC

1 paper

NM_020765.3

p.A2835delFs

c.8503delC