Varaico: Literature-Extracted Genetic Variants

CBL

1,638 papers

RefSeq Summary

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protei...

Pfam Domains

Cbl_Naa 51–175UCSCCBL proto-oncogene N-terminal domain 1

Cbl_N2aa 179–262UCSCCBL proto-oncogene N-terminus, EF hand-like domain

Cbl_N3aa 264–349UCSCCBL proto-oncogene N-terminus, SH2-like domain

zf-C3HC4aa 381–419UCSCZinc finger, C3HC4 type (RING finger)

UBAaa 856–892UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

Cbl proto-oncogene

HGNC Previous Symbol

CBL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005188.4

p.G12R

c.34G>C

Surrounding Variants

4 papers

NM_005188.4

p.G12R

c.34G>A

1 paper

NM_005188.4

p.G12fs

c.34_35fs

3 papers

NM_005188.4

p.G13delFs

c.38delG

3 papers

NM_005188.4

p.G12A

c.35G>C

6 papers

NM_005188.4

p.G12V

c.35G>T

1 paper

NM_005188.4

p.A11V

c.32C>T

1 paper

NM_005188.4

p.A11T

c.31G>A

1 paper

NM_005188.4

p.G13S

c.37G>A

1 paper

NM_005188.4

p.G13R

c.37G>C

1 paper

NM_005188.4

p.G13C

c.37G>T

5 papers

NM_005188.4

p.G13D

c.38G>A

1 paper

NM_005188.4

p.G13V

c.38G>T