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.K389T

c.1166A>C

Surrounding Variants

2 papers

NM_005188.4

p.K389R

c.1166A>G

2 papers

NM_005188.4

p.K389M

c.1166A>T

2 papers

NM_005188.4

p.K389E

c.1165A>G

2 papers

NM_005188.4

p.K389N

c.1167G>C

2 papers

NM_005188.4

p.K389N

c.1167G>T

1 paper

NM_005188.4

p.D390delFs

c.1168_1169delGA

15 papers

NM_005188.4

p.D390Y

c.1168G>T

1 paper

NM_005188.4

p.D390A

c.1169A>C

2 papers

NM_005188.4

p.D388G

c.1163A>G

1 paper

NM_005188.4

p.D390G

c.1169A>G

22 papers

NM_005188.4

p.D390V

c.1169A>T

1 paper

NM_005188.4

p.D390_I393del0

c.1170_1178del9