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.S296I

c.887G>T

Surrounding Variants

2 papers

NM_005188.4

p.S296G

c.886A>G

1 paper

NM_005188.4

p.L295Q

c.884T>A

1 paper

NM_005188.4

p.L295R

c.884T>G

1 paper

NM_005188.4

p.L295insFs

c.883_884insTT

1 paper

NM_005188.4

p.C297*

c.891T>A

1 paper

NM_005188.4

p.T298A

c.892A>G

1 paper

NM_005188.4

p.R294Q

c.881G>A

1 paper

NM_005188.4

p.R294L

c.881G>T

1 paper

NM_005188.4

p.R299S

c.895C>A

1 paper

NM_005188.4

p.R294_L300del7

c.880_899del21

2 papers

NM_005188.4

p.R299H

c.896G>A

1 paper

NM_005188.4

p.L300M

c.898C>A