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.V1300Splc

c.3900-24T>A

Surrounding Variants

1 paper

NM_020765.3

p.P1308_Q1309ins0

c.3923_3925dupCAC

1 paper

NM_020765.3

p.V1310I

c.3928G>A

1 paper

NM_020765.3

p.S1343Y

c.4028C>A

3 papers

NM_020765.3

p.R1349G

c.4045C>G

1 paper

NM_020765.3

p.R1349P

c.4046G>C

1 paper

NM_020765.3

p.R1349H

c.4046G>A

1 paper

NM_020765.3

p.Y1359*

c.4077C>G

1 paper

NM_020765.3

p.Y1359*

c.4077C>A

2 papers

NM_020765.3

p.N1369H

c.4105A>C

1 paper

NM_020765.3

p.L1278L

c.3832C>T

2 papers

NM_020765.3

p.T1272I

c.3815C>T

1 paper

NM_020765.3

p.I1256F

c.3766A>T