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.G335Fs

c.1003delinsGAFs

Surrounding Variants

1 paper

NM_005188.4

p.E334A

c.1001A>C

1 paper

NM_005188.4

p.E334Q

c.1000G>C

1 paper

NM_005188.4

p.F336L

c.1006T>C

1 paper

NM_005188.4

p.F336fs

c.1006_1007fs

1 paper

NM_005188.4

p.F336L

c.1008C>A

1 paper

NM_005188.4

p.F336L

c.1008C>G

1 paper

NM_005188.4

p.R333K

c.998G>A

1 paper

NM_005188.4

p.G331_F332del1

c.992_994delGCT

1 paper

NM_005188.4

p.I329delFs

c.986_987delTT

1 paper

NM_005188.4

p.L328R

c.983T>G

1 paper

NM_005188.4

p.Q326fs

c.976_977fs

1 paper

NM_005188.4

p.F325L

c.975C>A