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.G405G

c.1215T>C

Surrounding Variants

1 paper

NM_170662.5

p.D404fs

c.1210_1211fs

2 papers

NM_170662.5

p.Q406H

c.1218G>T

2 papers

NM_170662.5

p.Q406H

c.1218G>C

1 paper

NM_170662.5

p.S403delFs

c.1209delC

1 paper

NM_170662.5

p.S403*

c.1208C>A

1 paper

NM_170662.5

p.C408F

c.1223G>T

1 paper

NM_170662.5

p.E402*

c.1204G>T

1 paper

NM_170662.5

p.F410S

c.1229T>C

1 paper

NM_170662.5

p.C411F

c.1232G>T

2 papers

NM_170662.5

p.R412C

c.1234C>T

1 paper

NM_170662.5

p.R412H

c.1235G>A

1 paper

NM_170662.5

p.K416delFs

c.1248delT