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.C5121S

c.15361T>A

Surrounding Variants

1 paper

NM_020765.3

p.C5121S

c.15362G>C

1 paper

NM_020765.3

p.L5123L

c.15369C>T

1 paper

NM_020765.3

p.D5131N

c.15391G>A

1 paper

NM_020765.3

p.D5131E

c.15393C>A

1 paper

NM_020765.3

p.Y5135Y

c.15405C>T

1 paper

NM_020765.3

p.V5152L

c.15454G>T

1 paper

NM_020765.3

p.V5152L

c.15454G>C

7 papers

NM_020765.3

p.R5091H

c.15272G>A

1 paper

NM_020765.3

p.S5088S

c.15264C>T

2 papers

NM_020765.3

p.P5171A

c.15511C>G

2 papers

NM_020765.3

p.P5183T

c.15547C>A

1 paper

NM_020765.3

p.R5055H

c.15164G>A