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.A3283V

c.9848C>T

Surrounding Variants

1 paper

NM_020765.3

p.V3315M

c.9943G>A

1 paper

NM_020765.3

p.L3322M

c.9964C>A

1 paper

NM_020765.3

p.L3327L

c.9981G>C

1 paper

NM_020765.3

p.G3329S

c.9985G>A

1 paper

NM_020765.3

p.S3343S

c.10029C>T

3 papers

NM_020765.3

p.Q3358K

c.10072C>A

1 paper

NM_020765.3

p.S3370G

c.10108A>G

3 papers

NM_020765.3

p.A3263T

c.9787G>A

1 paper

NM_020765.3

p.L3251L

c.9753C>T

1 paper

NM_020765.3

p.R3238C

c.9712C>T

1 paper

NM_020765.3

p.R3211C

c.9631C>T

1 paper

NM_020765.3

p.R3207H

c.9620G>A