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

3 papers

NM_005188.4

p.V430L

c.1288G>C

Surrounding Variants

6 papers

NM_005188.4

p.V430M

c.1288G>A

3 papers

NM_005188.4

p.V430L

c.1288G>T

1 paper

NM_005188.4

p.I429I

c.1287C>T

1 paper

NM_005188.4

p.V430A

c.1289T>C

2 papers

NM_005188.4

p.I429N

c.1286T>A

3 papers

NM_005188.4

p.V431A

c.1292T>C

2 papers

NM_005188.4

p.P428L

c.1283C>T

1 paper

NM_005188.4

p.P428A

c.1282C>G

1 paper

NM_005188.4

p.P428S

c.1282C>T

1 paper

NM_005188.4

p.D432A

c.1295A>C

1 paper

NM_005188.4

p.D432G

c.1295A>G

1 paper

NM_005188.4

p.D432V

c.1295A>T