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.D1105G

c.3314A>G

Surrounding Variants

3 papers

NM_020765.3

p.T1107A

c.3319A>G

1 paper

NM_020765.3

p.F1101C

c.3302T>G

1 paper

NM_020765.3

p.I1109N

c.3326T>A

1 paper

NM_020765.3

p.F1101Y

c.3302T>A

1 paper

NM_020765.3

p.T1123S

c.3368C>G

1 paper

NM_020765.3

p.A1127T

c.3379G>A

1 paper

NM_020765.3

p.F1139L

c.3415T>C

1 paper

NM_020765.3

p.F1139L

c.3417T>G

1 paper

NM_020765.3

p.F1139L

c.3417T>A

2 papers

NM_020765.3

p.E1088V

c.3263A>T

1 paper

NM_020765.3

p.Y1085C

c.3254A>G

1 paper

NM_020765.3

p.Y1085S

c.3254A>C