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.L624S

c.1871T>C

Surrounding Variants

1 paper

NM_005188.4

p.P625fs

c.1873_1874fs

1 paper

NM_005188.4

p.S623*

c.1868C>A

1 paper

NM_005188.4

p.S623*

c.1868C>G

1 paper

NM_005188.4

p.P625L

c.1874C>T

1 paper

NM_005188.4

p.F622S

c.1865T>C

1 paper

NM_005188.4

p.F622C

c.1865T>G

1 paper

NM_005188.4

p.Q627*

c.1879C>T

1 paper

NM_005188.4

p.M628V

c.1882A>G

1 paper

NM_005188.4

p.M628_E629insFs

c.1884_1885insG

15 papers

NM_005188.4

p.L620F

c.1858C>T

1 paper

NM_005188.4

p.E629Q

c.1885G>C

1 paper

NM_005188.4

p.P630_L637delFs

c.1888_1910del23