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

15 papers

NM_005188.4

p.F418L

c.1252T>C

Surrounding Variants

7 papers

NM_005188.4

p.F418I

c.1252T>A

3 papers

NM_005188.4

p.F418V

c.1252T>G

20 papers

NM_005188.4

p.F418S

c.1253T>C

2 papers

NM_005188.4

p.F418C

c.1253T>G

15 papers

NM_005188.4

p.F418L

c.1254C>A

5 papers

NM_005188.4

p.P417H

c.1250C>A

18 papers

NM_005188.4

p.P417R

c.1250C>G

15 papers

NM_005188.4

p.F418L

c.1254C>G

18 papers

NM_005188.4

p.P417L

c.1250C>T

1 paper

NM_005188.4

p.C419_R420del2

c.1255_1259del6

1 paper

NM_005188.4

p.P417T

c.1249C>A

1 paper

NM_005188.4

p.P417ins1

c.1249_1250insTAT