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

3 papers

NM_005188.4

p.P532S

c.1594C>T

Surrounding Variants

1 paper

NM_005188.4

p.D530G

c.1589A>G

1 paper

NM_005188.4

p.P534S

c.1600C>T

1 paper

NM_005188.4

p.D530insFs

c.1588_1589insC

2 papers

NM_005188.4

p.K529N

c.1587A>C

2 papers

NM_005188.4

p.K529N

c.1587A>T

2 papers

NM_005188.4

p.V535I

c.1603G>A

1 paper

NM_005188.4

p.H528N

c.1582C>A

1 paper

NM_005188.4

p.P537S

c.1609C>T

1 paper

NM_005188.4

p.T538_L539insFs

c.1612_1615dup4

1 paper

NM_005188.4

p.T538_L539delFs

c.1612_1615del4

1 paper

NM_005188.4

p.T538K

c.1613C>A

1 paper

NM_005188.4

p.T538delFs

c.1614delA