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.H39Q

c.117C>G

Surrounding Variants

1 paper

NM_005188.4

p.H39Q

c.117C>A

1 paper

NM_005188.4

p.H40Y

c.118C>T

1 paper

NM_005188.4

p.H41_H42insHH

c.121_125ins6

2 papers

NM_005188.4

p.H38Y

c.112C>T

1 paper

NM_005188.4

p.H37Q

c.111C>A

1 paper

NM_005188.4

p.H42L

c.125A>T

1 paper

NM_005188.4

p.H36Q

c.108C>A

1 paper

NM_005188.4

p.H36Q

c.108C>G

1 paper

NM_005188.4

p.L43F

c.127C>T

1 paper

NM_005188.4

p.L43H

c.128T>A

3 papers

NM_005188.4

p.H42_L43ins0

c.125_127dupACC

4 papers

NM_005188.4

p.H41_L43ins1

c.122_127dup6