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.A2ins1

c.4_5insCCC

Surrounding Variants

2 papers

NM_005188.4

p.M1I

c.3G>A

1 paper

NM_005188.4

p.M1I

c.3G>C

1 paper

NM_005188.4

p.M1_A2insFs

c.3_4insA

1 paper

NM_005188.4

p.M1I

c.3G>T

1 paper

NM_005188.4

p.A2_K6delFs

c.4_17del14

1 paper

NM_005188.4

p.G3insFs

c.8dupG

1 paper

NM_005188.4

p.A2A

c.6C>G

1 paper

NM_005188.4

p.M1T

c.2T>C

1 paper

NM_005188.4

p.M1insFs

c.2_3ins7

1 paper

NM_005188.4

p.M1insFs

c.1_2ins5

1 paper

NM_005188.4

p.M1insFs

c.2_3insT

1 paper

NM_005188.4

p.M1L

c.1A>C