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.D432E

c.1296T>A

Surrounding Variants

1 paper

NM_005188.4

p.D432E

c.1296T>G

1 paper

NM_005188.4

p.D432A

c.1295A>C

1 paper

NM_005188.4

p.D432G

c.1295A>G

1 paper

NM_005188.4

p.D432V

c.1295A>T

1 paper

NM_005188.4

p.P433A

c.1297C>G

1 paper

NM_005188.4

p.P433S

c.1297C>T

1 paper

NM_005188.4

p.P433Q

c.1298C>A

6 papers

NM_005188.4

p.P433L

c.1298C>T

1 paper

NM_005188.4

p.P433_F434delins

c.1299_1300delinsTG

3 papers

NM_005188.4

p.V431A

c.1292T>C

1 paper

NM_005188.4

p.F434L

c.1300T>C

1 paper

NM_005188.4

p.F434V

c.1300T>G