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

12 papers

NM_005188.4

p.C404R

c.1210T>C

Surrounding Variants

11 papers

NM_005188.4

p.C404S

c.1210T>A

5 papers

NM_005188.4

p.C404G

c.1210T>G

1 paper

NM_005188.4

p.C404fs

c.1210_1211fs

59 papers

NM_005188.4

p.C404Y

c.1211G>A

11 papers

NM_005188.4

p.C404S

c.1211G>C

6 papers

NM_005188.4

p.C404F

c.1211G>T

1 paper

NM_005188.4

p.L405_S407delFs

c.1214_1220del7

4 papers

NM_005188.4

p.S403F

c.1208C>T

3 papers

NM_005188.4

p.C404W

c.1212T>G

1 paper

NM_005188.4

p.L405F

c.1213C>T

1 paper

NM_005188.4

p.S403delFs

c.1209delC

1 paper

NM_005188.4

p.L405H

c.1214T>A