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

17 papers

NM_005188.4

p.C381R

c.1141T>C

Surrounding Variants

3 papers

NM_005188.4

p.C381S

c.1141T>A

7 papers

NM_005188.4

p.C381G

c.1141T>G

25 papers

NM_005188.4

p.C381Y

c.1142G>A

3 papers

NM_005188.4

p.C381S

c.1142G>C

5 papers

NM_005188.4

p.C381F

c.1142G>T

1 paper

NM_005188.4

p.C381delFs

c.1143delT

73 papers

NM_005188.4

p.L380P

c.1139T>C

3 papers

NM_005188.4

p.L380R

c.1139T>G

1 paper

NM_005188.4

p.K382delFs

c.1146delA

19 papers

NM_005188.4

p.K382E

c.1144A>G

1 paper

NM_005188.4

p.K382fs

c.1144_1145fs

1 paper

NM_005188.4

p.L380V

c.1138C>G