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.V581fs

c.1741_1742fs

Surrounding Variants

1 paper

NM_005188.4

p.P580P

c.1740T>A

1 paper

NM_005188.4

p.V581A

c.1742T>C

2 papers

NM_005188.4

p.P580S

c.1738C>T

1 paper

NM_005188.4

p.P582S

c.1744C>T

1 paper

NM_005188.4

p.P580fs

c.1738_1739fs

1 paper

NM_005188.4

p.P582_V598ins5

c.1746_1793dup48

1 paper

NM_005188.4

p.P579S

c.1735C>T

1 paper

NM_005188.4

p.L578_P579Fs

c.1734_1735delinsAFs

1 paper

NM_005188.4

p.L578Q

c.1733T>A

1 paper

NM_005188.4

p.S583S

c.1749T>A

4 papers

NM_005188.4

p.R585C

c.1753C>T

5 papers

NM_005188.4

p.R585H

c.1754G>A