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.S376P

c.1126T>C

Surrounding Variants

11 papers

NM_005188.4

p.S376F

c.1127C>T

1 paper

NM_005188.4

p.G375D

c.1124G>A

2 papers

NM_005188.4

p.T377A

c.1129A>G

1 paper

NM_005188.4

p.G375S

c.1123G>A

2 papers

NM_005188.4

p.T377I

c.1130C>T

2 papers

NM_005188.4

p.M374K

c.1121T>A

1 paper

NM_005188.4

p.M374R

c.1121T>G

3 papers

NM_005188.4

p.M374V

c.1120A>G

2 papers

NM_005188.4

p.F378L

c.1132T>C

1 paper

NM_005188.4

p.F378V

c.1132T>G

2 papers

NM_005188.4

p.E373D

c.1119G>C

2 papers

NM_005188.4

p.E373D

c.1119G>T