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.R1394H

c.4181G>A

Surrounding Variants

1 paper

NM_020765.3

p.A1393S

c.4177G>T

1 paper

NM_020765.3

p.S1402P

c.4204T>C

1 paper

NM_020765.3

p.S1445I

c.4334G>T

1 paper

NM_020765.3

p.A1454T

c.4360G>A

1 paper

NM_020765.3

p.L1491delFs

c.4471_4472delAG

2 papers

NM_020765.3

p.S1504G

c.4510A>G

1 paper

NM_020765.3

p.G1507V

c.4520G>T

1 paper

NM_020765.3

p.T1517S

c.4549A>T

1 paper

NM_020765.3

p.T1517S

c.4550C>G

1 paper

NM_020765.3

p.A1522T

c.4564G>A

2 papers

NM_020765.3

p.N1369H

c.4105A>C

1 paper

NM_020765.3

p.Y1359*

c.4077C>G