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.D588E

c.1764C>A

Surrounding Variants

1 paper

NM_005188.4

p.D588E

c.1764C>G

1 paper

NM_005188.4

p.S589P

c.1765T>C

1 paper

NM_005188.4

p.S589L

c.1766C>T

1 paper

NM_005188.4

p.G587A

c.1760G>C

2 papers

NM_005188.4

p.L586P

c.1757T>C

1 paper

NM_005188.4

p.L586delins

c.1757_1758delinsCA

2 papers

NM_005188.4

p.P592S

c.1774C>T

5 papers

NM_005188.4

p.R585H

c.1754G>A

5 papers

NM_005188.4

p.R585L

c.1754G>T

4 papers

NM_005188.4

p.R585C

c.1753C>T

4 papers

NM_005188.4

p.R593W

c.1777C>T

1 paper

NM_005188.4

p.R593Q

c.1778G>A