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

37 papers

NM_005188.4

p.Y371C

c.1112A>G

Surrounding Variants

29 papers

NM_005188.4

p.Y371S

c.1112A>C

12 papers

NM_005188.4

p.Y371F

c.1112A>T

4 papers

NM_005188.4

p.Y371*

c.1113C>A

4 papers

NM_005188.4

p.Y371*

c.1113C>G

24 papers

NM_005188.4

p.Y371N

c.1111T>A

110 papers

NM_005188.4

p.Y371H

c.1111T>C

12 papers

NM_005188.4

p.Y371D

c.1111T>G

1 paper

NM_005188.4

p.Y371fs

c.1111_1112fs

1 paper

NM_005188.4

p.Y371fs

c.1111_1112fs

4 papers

NM_005188.4

p.L370F

c.1110A>C

3 papers

NM_005188.4

p.L370F

c.1110A>T

4 papers

NM_005188.4

p.Y371del1

c.1111_1112delTAC