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.E386*

c.1156G>T

Surrounding Variants

3 papers

NM_005188.4

p.E386K

c.1156G>A

1 paper

NM_005188.4

p.E386fs

c.1156_1157fs

1 paper

NM_005188.4

p.E386_K389Fs

c.1157_1166delinsGGGGGGFs

1 paper

NM_005188.4

p.N387_D388del2

c.1159_1163del6

1 paper

NM_005188.4

p.N387_D388insC

c.1159_1163ins3

1 paper

NM_005188.4

p.N387D

c.1159A>G

1 paper

NM_005188.4

p.N387_D388del1

c.1160_1162delATG

1 paper

NM_005188.4

p.A385P

c.1153G>C

1 paper

NM_005188.4

p.A385insFs

c.1154_1155ins5

1 paper

NM_005188.4

p.N387I

c.1160A>T

4 papers

NM_005188.4

p.C384W

c.1152T>G

51 papers

NM_005188.4

p.C384Y

c.1151G>A