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

3 papers

NM_020765.3

p.C4179*

c.12537T>A

Surrounding Variants

1 paper

NM_020765.3

p.E4178G

c.12533A>G

1 paper

NM_020765.3

p.A4176T

c.12526G>A

1 paper

NM_020765.3

p.S4174R

c.12522C>G

1 paper

NM_020765.3

p.S4174R

c.12522C>A

1 paper

NM_020765.3

p.S4174R

c.12520A>C

1 paper

NM_020765.3

p.D4171E

c.12513T>G

1 paper

NM_020765.3

p.D4171E

c.12513T>A

1 paper

NM_020765.3

p.K4189N

c.12567G>T

1 paper

NM_020765.3

p.K4189N

c.12567G>C

1 paper

NM_020765.3

p.P4207L

c.12620C>T

1 paper

NM_020765.3

p.D4231N

c.12691G>A

1 paper

NM_020765.3

p.L4238R

c.12713T>G