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.P608T

c.1822C>A

Surrounding Variants

1 paper

NM_005188.4

p.W609*

c.1826G>A

1 paper

NM_005188.4

p.W609*

c.1827G>A

1 paper

NM_005188.4

p.S605S

c.1815C>A

1 paper

NM_005188.4

p.T610K

c.1829C>A

1 paper

NM_005188.4

p.G611R

c.1831G>A

1 paper

NM_005188.4

p.G611R

c.1831G>C

1 paper

NM_005188.4

p.S605delFs

c.1814_1815delCC

1 paper

NM_005188.4

p.S604G

c.1810A>G

1 paper

NM_005188.4

p.R612K

c.1835G>A

1 paper

NM_005188.4

p.R612T

c.1835G>C

2 papers

NM_005188.4

p.A602T

c.1804G>A

1 paper

NM_005188.4

p.L614*

c.1841T>A