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.M647_S648Splc

c.1941+1G>A

Surrounding Variants

1 paper

NM_005188.4

p.M647T

c.1940T>C

1 paper

NM_005188.4

p.M647delFs

c.1939delA

1 paper

NM_005188.4

p.D644Y

c.1930G>T

1 paper

NM_005188.4

p.L643insFs

c.1927_1928insG

1 paper

NM_005188.4

p.F641C

c.1922T>G

1 paper

NM_005188.4

p.T640A

c.1918A>G

1 paper

NM_005188.4

p.P635H

c.1904C>A

1 paper

NM_005188.4

p.D633H

c.1897G>C

1 paper

NM_005188.4

p.P630_L637delFs

c.1888_1910del23

1 paper

NM_005188.4

p.E629Q

c.1885G>C

1 paper

NM_005188.4

p.M628_E629insFs

c.1884_1885insG

1 paper

NM_005188.4

p.M628V

c.1882A>G