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

1–12 of 1336 variants

137 papers

NM_005188.4

p.R420Q

c.1259G>A

110 papers

NM_005188.4

p.Y371H

c.1111T>C

73 papers

NM_005188.4

p.L380P

c.1139T>C

59 papers

NM_005188.4

p.Q367P

c.1100A>C

59 papers

NM_005188.4

p.C404Y

c.1211G>A

54 papers

NM_005188.4

p.G306E

c.917G>A

51 papers

NM_005188.4

p.C384Y

c.1151G>A

44 papers

NM_005188.4

p.C384R

c.1150T>C

37 papers

NM_005188.4

p.Y371C

c.1112A>G

35 papers

NM_005188.4

p.C396R

c.1186T>C

29 papers

NM_005188.4

p.Y371S

c.1112A>C

29 papers

NM_005188.4

p.Q409_E410Splc

c.1228-2A>G