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

7 papers

NM_005188.4

p.H398P

c.1193A>C

Surrounding Variants

19 papers

NM_005188.4

p.H398R

c.1193A>G

3 papers

NM_005188.4

p.H398L

c.1193A>T

11 papers

NM_005188.4

p.H398Q

c.1194C>A

11 papers

NM_005188.4

p.H398Q

c.1194C>G

20 papers

NM_005188.4

p.H398Y

c.1192C>T

2 papers

NM_005188.4

p.L399I

c.1195C>A

4 papers

NM_005188.4

p.L399V

c.1195C>G

1 paper

NM_005188.4

p.G397E

c.1190G>A

8 papers

NM_005188.4

p.G397V

c.1190G>T

6 papers

NM_005188.4

p.L399H

c.1196T>A

5 papers

NM_005188.4

p.L399P

c.1196T>C

6 papers

NM_005188.4

p.L399R

c.1196T>G