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.N4N

c.12C>T

Surrounding Variants

1 paper

NM_005188.4

p.V5insFs

c.13dupG

1 paper

NM_005188.4

p.N4insFs

c.12dupC

1 paper

NM_005188.4

p.N4I

c.11A>T

1 paper

NM_005188.4

p.V5L

c.13G>C

1 paper

NM_005188.4

p.V5Fs

c.13delinsTTFs

2 papers

NM_005188.4

p.N4D

c.10A>G

1 paper

NM_005188.4

p.G3G

c.9C>A

2 papers

NM_005188.4

p.K6Q

c.16A>C

1 paper

NM_005188.4

p.G3A

c.8G>C

1 paper

NM_005188.4

p.G3V

c.8G>T

1 paper

NM_005188.4

p.N4_S17del14

c.10_50del42

1 paper

NM_005188.4

p.K6R

c.17A>G