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.S439R

c.1317T>A

Surrounding Variants

1 paper

NM_005188.4

p.S439R

c.1317T>G

1 paper

NM_005188.4

p.G440insFs

c.1319dupG

2 papers

NM_005188.4

p.S439N

c.1316G>A

2 papers

NM_005188.4

p.G440S

c.1318G>A

1 paper

NM_005188.4

p.S439R

c.1315A>C

1 paper

NM_005188.4

p.G440V

c.1319G>T

2 papers

NM_005188.4

p.G440G

c.1320C>T

2 papers

NM_005188.4

p.S441C

c.1321A>T

2 papers

NM_005188.4

p.G438R

c.1312G>A

2 papers

NM_005188.4

p.G438R

c.1312G>C

1 paper

NM_005188.4

p.G438W

c.1312G>T

1 paper

NM_005188.4

p.R437K

c.1310G>A