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.K58*

c.172A>T

Surrounding Variants

2 papers

NM_005188.4

p.K58E

c.172A>G

1 paper

NM_005188.4

p.E57K

c.169G>A

1 paper

NM_005188.4

p.C59Y

c.176G>A

1 paper

NM_005188.4

p.W60S

c.179G>C

1 paper

NM_005188.4

p.K61T

c.182A>C

3 papers

NM_005188.4

p.K61R

c.182A>G

2 papers

NM_005188.4

p.K61M

c.182A>T

1 paper

NM_005188.4

p.K54E

c.160A>G

1 paper

NM_005188.4

p.L62H

c.185T>A

1 paper

NM_005188.4

p.L62R

c.185T>G

1 paper

NM_005188.4

p.L62L

c.186C>A

1 paper

NM_005188.4

p.D64E

c.192C>A