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

2 papers

NM_020765.3

p.R3989W

c.11965C>T

Surrounding Variants

1 paper

NM_020765.3

p.C3985Y

c.11954G>A

1 paper

NM_020765.3

p.T3940N

c.11819C>A

1 paper

NM_020765.3

p.R3934Splc

c.11801+154T>C

1 paper

NM_020765.3

p.R3926C

c.11776C>T

1 paper

NM_020765.3

p.H3898insFs

c.11692_11693insG

2 papers

NM_020765.3

p.R3825H

c.11474G>A

1 paper

NM_020765.3

p.S3824L

c.11471C>T

2 papers

NM_020765.3

p.Y3803C

c.11408A>G

1 paper

NM_020765.3

p.A3800G

c.11399C>G

1 paper

NM_020765.3

p.G3784delFs

c.11351delC

2 papers

NM_020765.3

p.V4039V

c.12117T>C

1 paper

NM_020765.3

p.A4041V

c.12122C>T