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.D571Y

c.1711G>T

Surrounding Variants

2 papers

NM_005188.4

p.D571N

c.1711G>A

1 paper

NM_005188.4

p.D571insFs

c.1711_1712insG

1 paper

NM_005188.4

p.G570A

c.1709G>C

1 paper

NM_005188.4

p.C572_P573insFs

c.1716_1717insG

1 paper

NM_005188.4

p.P569T

c.1705C>A

1 paper

NM_005188.4

p.P573A

c.1717C>G

1 paper

NM_005188.4

p.C567*

c.1701T>A

1 paper

NM_005188.4

p.R575G

c.1723A>G

3 papers

NM_005188.4

p.P566A

c.1696C>G

1 paper

NM_005188.4

p.D576N

c.1726G>A

1 paper

NM_005188.4

p.L565fs

c.1693_1694fs

1 paper

NM_005188.4

p.L565delFs

c.1694delT