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

29 papers

NM_005188.4

p.Q409_E410Splc

c.1228-2A>G

Surrounding Variants

2 papers

NM_005188.4

p.Q409_E410Splc

c.1228-2A>T

6 papers

NM_005188.4

p.Q409_E410Splc

c.1228-1G>A

1 paper

NM_005188.4

p.E410fs

c.1228_1229fs

2 papers

NM_005188.4

p.E410*

c.1228G>T

1 paper

NM_005188.4

p.E410A

c.1229A>C

1 paper

NM_005188.4

p.S411L

c.1232C>T

1 paper

NM_005188.4

p.E412K

c.1234G>A

1 paper

NM_005188.4

p.G413_K424insFs

c.1237_1271dup35

1 paper

NM_005188.4

p.E412insFs

c.1234_1235ins5

4 papers

NM_005188.4

p.G413S

c.1237G>A

5 papers

NM_005188.4

p.G413R

c.1237G>C

2 papers

NM_005188.4

p.G413C

c.1237G>T