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

5 papers

NM_005188.4

p.V600E

c.1799T>A

Surrounding Variants

1 paper

NM_005188.4

p.S601P

c.1801T>C

1 paper

NM_005188.4

p.P599_S606del0

c.1795_1818del24

2 papers

NM_005188.4

p.A602T

c.1804G>A

1 paper

NM_005188.4

p.V598I

c.1792G>A

1 paper

NM_005188.4

p.V598fs

c.1792_1793fs

1 paper

NM_005188.4

p.S604G

c.1810A>G

1 paper

NM_005188.4

p.S605delFs

c.1814_1815delCC

1 paper

NM_005188.4

p.S605S

c.1815C>A

1 paper

NM_005188.4

p.P594R

c.1781C>G

1 paper

NM_005188.4

p.P594T

c.1780C>A

1 paper

NM_005188.4

p.R593Q

c.1778G>A

4 papers

NM_005188.4

p.R593W

c.1777C>T