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

24 papers

NM_005188.4

p.C416S

c.1247G>C

Surrounding Variants

20 papers

NM_005188.4

p.C416Y

c.1247G>A

3 papers

NM_005188.4

p.C416F

c.1247G>T

24 papers

NM_005188.4

p.C416S

c.1246T>A

12 papers

NM_005188.4

p.C416R

c.1246T>C

6 papers

NM_005188.4

p.C416W

c.1248T>G

2 papers

NM_005188.4

p.C416G

c.1246T>G

1 paper

NM_005188.4

p.P417T

c.1249C>A

1 paper

NM_005188.4

p.P417ins1

c.1249_1250insTAT

7 papers

NM_005188.4

p.P417A

c.1249C>G

15 papers

NM_005188.4

p.P417S

c.1249C>T

5 papers

NM_005188.4

p.P417H

c.1250C>A

18 papers

NM_005188.4

p.P417R

c.1250C>G