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.P560L

c.1679C>T

Surrounding Variants

2 papers

NM_005188.4

p.Q561E

c.1681C>G

3 papers

NM_005188.4

p.R559Q

c.1676G>A

1 paper

NM_005188.4

p.R559L

c.1676G>T

2 papers

NM_005188.4

p.R559*

c.1675C>T

1 paper

NM_005188.4

p.R562fs

c.1684_1685fs

1 paper

NM_005188.4

p.S558T

c.1672T>A

4 papers

NM_005188.4

p.R563C

c.1687C>T

1 paper

NM_005188.4

p.R563H

c.1688G>A

1 paper

NM_005188.4

p.R563L

c.1688G>T

1 paper

NM_005188.4

p.P564S

c.1690C>T

1 paper

NM_005188.4

p.L565delFs

c.1694delT

1 paper

NM_005188.4

p.A556_R559delFs

c.1666_1676del11