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.P548L

c.1643C>T

Surrounding Variants

1 paper

NM_005188.4

p.P548S

c.1642C>T

1 paper

NM_005188.4

p.D549E

c.1647C>A

1 paper

NM_005188.4

p.P547_P548insAA

c.1639_1643ins6

1 paper

NM_005188.4

p.D549E

c.1647C>G

1 paper

NM_005188.4

p.P547S

c.1639C>T

4 papers

NM_005188.4

p.R550W

c.1648C>T

3 papers

NM_005188.4

p.P546L

c.1637C>T

3 papers

NM_005188.4

p.P551S

c.1651C>T

1 paper

NM_005188.4

p.P544P

c.1632A>C

1 paper

NM_005188.4

p.P544R

c.1631C>G

1 paper

NM_005188.4

p.P544S

c.1630C>T

1 paper

NM_005188.4

p.S553C

c.1658C>G