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.D31N

c.91G>A

Surrounding Variants

1 paper

NM_005188.4

p.D31E

c.93C>A

1 paper

NM_005188.4

p.D31E

c.93C>G

1 paper

NM_005188.4

p.F33C

c.98T>G

1 paper

NM_005188.4

p.L28P

c.83T>C

1 paper

NM_005188.4

p.P35_H36ins0

c.104_106dupCGC

1 paper

NM_005188.4

p.G27G

c.81G>A

2 papers

NM_005188.4

p.P35S

c.103C>T

1 paper

NM_005188.4

p.P35Q

c.104C>A

3 papers

NM_005188.4

p.H42_L43ins0

c.125_127dupACC

4 papers

NM_005188.4

p.H41_L43ins1

c.122_127dup6

1 paper

NM_005188.4

p.H36ins1

c.106_107insCAC

6 papers

NM_005188.4

p.H42del1

c.124_125delCAC