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.Q365_E366Splc

c.1096-2A>C

Surrounding Variants

1 paper

NM_005188.4

p.Q365_E366Splc

c.1096-2A>G

7 papers

NM_005188.4

p.Q365_E366Splc

c.1096-2A>T

2 papers

NM_005188.4

p.Q365_E366Splc

c.1096-1G>A

15 papers

NM_005188.4

p.Q365_E366Splc

c.1096-1G>C

21 papers

NM_005188.4

p.Q365_E366Splc

c.1096-1G>T

1 paper

NM_005188.4

p.E366_Q367del2

c.1096_1100del6

8 papers

NM_005188.4

p.E366K

c.1096G>A

1 paper

NM_005188.4

p.Q367_Y368ins1

c.1101_1102insCAA

1 paper

NM_005188.4

p.E366ins2

c.1097_1098ins6

3 papers

NM_005188.4

p.E366fs

c.1096_1097fs

2 papers

NM_005188.4

p.E366*

c.1096G>T

2 papers

NM_005188.4

p.E366_Q367del1

c.1097_1099delAAC