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.L25Q

c.74T>A

Surrounding Variants

1 paper

NM_005188.4

p.I26F

c.76A>T

1 paper

NM_005188.4

p.G24D

c.71G>A

1 paper

NM_005188.4

p.G24C

c.70G>T

1 paper

NM_005188.4

p.G27G

c.81G>A

1 paper

NM_005188.4

p.S22L

c.65C>T

1 paper

NM_005188.4

p.G23_G24delFs

c.68_71del4

1 paper

NM_005188.4

p.L28P

c.83T>C

1 paper

NM_005188.4

p.S22A

c.64T>G

1 paper

NM_005188.4

p.G21D

c.62G>A

1 paper

NM_005188.4

p.S20S

c.60G>A

2 papers

NM_005188.4

p.S20L

c.59C>T

1 paper

NM_005188.4

p.S20delFs

c.58delT