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.K2400R

c.7199A>G

Surrounding Variants

1 paper

NM_020765.3

p.P2365fs

c.7093_7094fs

1 paper

NM_020765.3

p.P2365delFs

c.7094delG

1 paper

NM_020765.3

p.P2365L

c.7094C>T

1 paper

NM_020765.3

p.P2365S

c.7093C>T

1 paper

NM_020765.3

p.R2353Q

c.7058G>A

1 paper

NM_020765.3

p.N2344S

c.7031A>G

1 paper

NM_020765.3

p.G2406R

c.7216G>C

1 paper

NM_020765.3

p.G2406R

c.7216G>A

1 paper

NM_020765.3

p.S2408P

c.7222T>C

1 paper

NM_020765.3

p.G2424fs

c.7270_7271fs

1 paper

NM_020765.3

p.G2424delFs

c.7271delC

1 paper

NM_020765.3

p.E2439*

c.7315G>T