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.G2649Splc

c.7945+24T>C

Surrounding Variants

2 papers

NM_020765.3

p.N2639I

c.7916A>T

1 paper

NM_020765.3

p.G2607W

c.7819G>T

1 paper

NM_020765.3

p.E2602V

c.7805A>T

1 paper

NM_020765.3

p.I2653I

c.7959T>C

1 paper

NM_020765.3

p.T2677I

c.8030C>T

1 paper

NM_020765.3

p.Q2684*

c.8050C>T

1 paper

NM_020765.3

p.R2584C

c.7750C>T

4 papers

NM_020765.3

p.A2581V

c.7742C>T

1 paper

NM_020765.3

p.S2579C

c.7736C>G

1 paper

NM_020765.3

p.K2550K

c.7650A>G

1 paper

NM_020765.3

p.R2703*

c.8107C>T

1 paper

NM_020765.3

p.R2703Q

c.8108G>A