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

2 papers

NM_005188.4

p.T377A

c.1129A>G

Surrounding Variants

2 papers

NM_005188.4

p.T377I

c.1130C>T

11 papers

NM_005188.4

p.S376F

c.1127C>T

2 papers

NM_005188.4

p.F378L

c.1132T>C

1 paper

NM_005188.4

p.S376P

c.1126T>C

1 paper

NM_005188.4

p.F378V

c.1132T>G

2 papers

NM_005188.4

p.F378L

c.1134C>A

2 papers

NM_005188.4

p.F378L

c.1134C>G

1 paper

NM_005188.4

p.G375D

c.1124G>A

1 paper

NM_005188.4

p.Q379K

c.1135C>A

1 paper

NM_005188.4

p.Q379*

c.1135C>T

1 paper

NM_005188.4

p.G375S

c.1123G>A

4 papers

NM_005188.4

p.Q379R

c.1136A>G