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.H618P

c.1853A>C

Surrounding Variants

1 paper

NM_005188.4

p.H618Y

c.1852C>T

2 papers

NM_005188.4

p.R617Q

c.1850G>A

4 papers

NM_005188.4

p.R617L

c.1850G>T

2 papers

NM_005188.4

p.R617W

c.1849C>T

15 papers

NM_005188.4

p.L620F

c.1858C>T

1 paper

NM_005188.4

p.N616S

c.1847A>G

1 paper

NM_005188.4

p.T615A

c.1843A>G

1 paper

NM_005188.4

p.L614*

c.1841T>A

1 paper

NM_005188.4

p.F622S

c.1865T>C

1 paper

NM_005188.4

p.L614*

c.1841T>G

1 paper

NM_005188.4

p.F622C

c.1865T>G

1 paper

NM_005188.4

p.S623*

c.1868C>A