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.L23M

c.67T>A

Surrounding Variants

1 paper

NM_170662.5

p.I22delFs

c.64delT

1 paper

NM_170662.5

p.D27E

c.81T>G

1 paper

NM_170662.5

p.D27E

c.81T>A

2 papers

NM_170662.5

p.R18*

c.52C>T

1 paper

NM_170662.5

p.A32insFs

c.94_95insA

1 paper

NM_170662.5

p.A32V

c.95C>T

3 papers

NM_170662.5

p.G12D

c.35G>A

2 papers

NM_170662.5

p.G12C

c.34G>T

1 paper

NM_170662.5

p.G12R

c.34G>C

1 paper

NM_170662.5

p.P10_G11ins1

c.30_31insAAA

1 paper

NM_170662.5

p.Q38*

c.112C>T

1 paper

NM_170662.5

p.Q38K

c.112C>A