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

3 papers

NM_170662.5

p.H152R

c.455A>G

Surrounding Variants

1 paper

NM_170662.5

p.F150L

c.450C>G

1 paper

NM_170662.5

p.F150L

c.450C>A

1 paper

NM_170662.5

p.F150L

c.448T>C

3 papers

NM_170662.5

p.A155V

c.464C>T

1 paper

NM_170662.5

p.L148F

c.442C>T

1 paper

NM_170662.5

p.S147F

c.440C>T

2 papers

NM_170662.5

p.R141Q

c.422G>A

1 paper

NM_170662.5

p.R141*

c.421C>T

1 paper

NM_170662.5

p.R140Splc

c.420-1G>A

1 paper

NM_170662.5

p.R172H

c.515G>A

1 paper

NM_170662.5

p.A176T

c.526G>A

3 papers

NM_170662.5

p.F181Y

c.542T>A