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.Y368H

c.1102T>C

Surrounding Variants

2 papers

NM_005188.4

p.Y368N

c.1102T>A

1 paper

NM_005188.4

p.Y368D

c.1102T>G

1 paper

NM_005188.4

p.Y368fs

c.1102_1103fs

1 paper

NM_005188.4

p.Q367H

c.1101A>C

1 paper

NM_005188.4

p.Y368S

c.1103A>C

7 papers

NM_005188.4

p.Y368C

c.1103A>G

7 papers

NM_005188.4

p.Y368F

c.1103A>T

1 paper

NM_005188.4

p.Q367H

c.1101A>T

1 paper

NM_005188.4

p.Y368del1

c.1102_1103delTAT

59 papers

NM_005188.4

p.Q367P

c.1100A>C

3 papers

NM_005188.4

p.Q367R

c.1100A>G

1 paper

NM_005188.4

p.Y368_Y371del0

c.1104_1112del9