Varaico: Literature-Extracted Genetic Variants

CBLB

339 papers

RefSeq Summary

This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded pr...

Pfam Domains

Cbl_Naa 41–167UCSCCBL proto-oncogene N-terminal domain 1

Cbl_N2aa 171–254UCSCCBL proto-oncogene N-terminus, EF hand-like domain

Cbl_N3aa 256–341UCSCCBL proto-oncogene N-terminus, SH2-like domain

zf-C3HC4aa 373–411UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

Cbl proto-oncogene B

HGNC Alias Symbols

RNF56; Cbl-b

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170662.5

p.L124L

c.372C>A

Surrounding Variants

1 paper

NM_170662.5

p.F125I

c.373T>A

1 paper

NM_170662.5

p.E127*

c.379G>T

1 paper

NM_170662.5

p.I122V

c.364A>G

2 papers

NM_170662.5

p.G128G

c.384C>G

1 paper

NM_170662.5

p.R120W

c.358C>T

1 paper

NM_170662.5

p.K129K

c.387G>A

1 paper

NM_170662.5

p.E130K

c.388G>A

1 paper

NM_170662.5

p.E130G

c.389A>G

1 paper

NM_170662.5

p.Y133F

c.398A>T

1 paper

NM_170662.5

p.E135K

c.403G>A

1 paper

NM_170662.5

p.S113R

c.339C>G

1 paper

NM_170662.5

p.S113R

c.339C>A