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

4 papers

NM_170662.5

p.P193L

c.578C>T

Surrounding Variants

1 paper

NM_170662.5

p.P193S

c.577C>T

1 paper

NM_170662.5

p.W194*

c.581G>A

1 paper

NM_170662.5

p.W194*

c.582G>A

1 paper

NM_170662.5

p.V192I

c.574G>A

1 paper

NM_170662.5

p.W194Fs

c.581_582delinsTFs

1 paper

NM_170662.5

p.I191T

c.572T>C

1 paper

NM_170662.5

p.I191F

c.571A>T

1 paper

NM_170662.5

p.T190N

c.569C>A

1 paper

NM_170662.5

p.V196V

c.588A>G

1 paper

NM_170662.5

p.L201P

c.602T>C

1 paper

NM_170662.5

p.I207M

c.621T>G

1 paper

NM_170662.5

p.L216L

c.646C>T