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

3 papers

NM_005188.4

p.T402P

c.1204A>C

Surrounding Variants

1 paper

NM_005188.4

p.C401W

c.1203C>G

2 papers

NM_005188.4

p.T402_L405del0

c.1204_1215del12

16 papers

NM_005188.4

p.C401Y

c.1202G>A

12 papers

NM_005188.4

p.C401S

c.1202G>C

6 papers

NM_005188.4

p.C401F

c.1202G>T

12 papers

NM_005188.4

p.C401S

c.1201T>A

4 papers

NM_005188.4

p.C401R

c.1201T>C

2 papers

NM_005188.4

p.C401G

c.1201T>G

1 paper

NM_005188.4

p.S403delFs

c.1209delC

4 papers

NM_005188.4

p.S403F

c.1208C>T

2 papers

NM_005188.4

p.M400I

c.1200G>A

2 papers

NM_005188.4

p.M400I

c.1200G>C