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

1–12 of 409 variants

7 papers

NM_170662.5

p.S622T

c.1865G>C

5 papers

NM_170662.5

p.N466D

c.1396A>G

4 papers

NM_170662.5

p.P193L

c.578C>T

4 papers

NM_170662.5

p.R248Q

c.743G>A

4 papers

NM_170662.5

p.R272Q

c.815G>A

4 papers

NM_170662.5

p.R463W

c.1387C>T

3 papers

NM_170662.5

p.G12D

c.35G>A

3 papers

NM_170662.5

p.Q61K

c.181C>A

3 papers

NM_170662.5

p.Q66L

c.197A>T

3 papers

NM_170662.5

p.H152R

c.455A>G

3 papers

NM_170662.5

p.A155V

c.464C>T

3 papers

NM_170662.5

p.F181Y

c.542T>A