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.I423V

c.1267A>G

Surrounding Variants

1 paper

NM_005188.4

p.I423F

c.1267A>T

1 paper

NM_005188.4

p.I423_T426del4

c.1267_1277del12

9 papers

NM_005188.4

p.I423N

c.1268T>A

1 paper

NM_005188.4

p.G425_E427del0

c.1273_1281del9

1 paper

NM_005188.4

p.E422K

c.1264G>A

1 paper

NM_005188.4

p.C421*

c.1263T>A

1 paper

NM_005188.4

p.C421W

c.1263T>G

2 papers

NM_005188.4

p.C421S

c.1262G>C

2 papers

NM_005188.4

p.C421F

c.1262G>T

1 paper

NM_005188.4

p.G425R

c.1273G>C

1 paper

NM_005188.4

p.G425C

c.1273G>T

2 papers

NM_005188.4

p.C421S

c.1261T>A