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

1 paper

NM_005188.4

p.G312G

c.936G>C

Surrounding Variants

1 paper

NM_005188.4

p.N313_I314ins1

c.939_940insAAG

1 paper

NM_005188.4

p.A310V

c.929C>T

1 paper

NM_005188.4

p.Q316K

c.946C>A

1 paper

NM_005188.4

p.T309S

c.926C>G

1 paper

NM_005188.4

p.T309S

c.925A>T

1 paper

NM_005188.4

p.I318N

c.953T>A

1 paper

NM_005188.4

p.I318S

c.953T>G

1 paper

NM_005188.4

p.I318M

c.954C>G

1 paper

NM_005188.4

p.P319S

c.955C>T

54 papers

NM_005188.4

p.G306E

c.917G>A

1 paper

NM_005188.4

p.G306delFs

c.916delG

1 paper

NM_005188.4

p.H320D

c.958C>G