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.W303R

c.907T>C

Surrounding Variants

1 paper

NM_005188.4

p.W303*

c.908G>A

1 paper

NM_005188.4

p.W303*

c.909G>A

1 paper

NM_005188.4

p.Q302K

c.904C>A

2 papers

NM_005188.4

p.Q302fs

c.904_905fs

2 papers

NM_005188.4

p.Q302*

c.904C>T

1 paper

NM_005188.4

p.A304P

c.910G>C

1 paper

NM_005188.4

p.G301D

c.902G>A

4 papers

NM_005188.4

p.I305V

c.913A>G

1 paper

NM_005188.4

p.I305F

c.913A>T

1 paper

NM_005188.4

p.I305T

c.914T>C

1 paper

NM_005188.4

p.G306delFs

c.916delG

1 paper

NM_005188.4

p.L300M

c.898C>A