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.K531_S532Splc

c.1594-1G>T

Surrounding Variants

1 paper

NM_170662.5

p.M536I

c.1608G>T

1 paper

NM_170662.5

p.M536I

c.1608G>C

1 paper

NM_170662.5

p.M536I

c.1608G>A

1 paper

NM_170662.5

p.Q540K

c.1618C>A

1 paper

NM_170662.5

p.D541V

c.1622A>T

1 paper

NM_170662.5

p.D541G

c.1622A>G

1 paper

NM_170662.5

p.K542K

c.1626A>G

1 paper

NM_170662.5

p.P549S

c.1645C>T

2 papers

NM_170662.5

p.P557L

c.1670C>T

2 papers

NM_170662.5

p.R573fs

c.1717_1718fs

2 papers

NM_170662.5

p.R573_H574delFs

c.1718_1721del4

1 paper

NM_170662.5

p.H577Y

c.1729C>T