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.D585N

c.1753G>A

Surrounding Variants

1 paper

NM_170662.5

p.S583C

c.1748C>G

1 paper

NM_170662.5

p.P587L

c.1760C>T

2 papers

NM_170662.5

p.V581M

c.1741G>A

1 paper

NM_170662.5

p.E591Q

c.1771G>C

1 paper

NM_170662.5

p.E579K

c.1735G>A

1 paper

NM_170662.5

p.H577Y

c.1729C>T

2 papers

NM_170662.5

p.R573_H574delFs

c.1718_1721del4

1 paper

NM_170662.5

p.R596G

c.1786C>G

2 papers

NM_170662.5

p.R573fs

c.1717_1718fs

1 paper

NM_170662.5

p.Q603K

c.1807C>A

1 paper

NM_170662.5

p.G606*

c.1816G>T

1 paper

NM_170662.5

p.C607Y

c.1820G>A