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.R248Q

c.743G>A

Surrounding Variants

1 paper

NM_170662.5

p.R248W

c.742C>T

1 paper

NM_170662.5

p.N249_W250del1

c.746_748delAAT

1 paper

NM_170662.5

p.N251S

c.752A>G

1 paper

NM_170662.5

p.W243R

c.727T>C

1 paper

NM_170662.5

p.W243R

c.727T>A

1 paper

NM_170662.5

p.L253F

c.759A>T

1 paper

NM_170662.5

p.L253F

c.759A>C

3 papers

NM_001321786.1

p.H285L

c.854A>T

NM_170662.5

p.H257L

c.770A>T

1 paper

NM_170662.5

p.L264F

c.790C>T

4 papers

NM_170662.5

p.R272Q

c.815G>A

1 paper

NM_170662.5

p.Q274P

c.821A>C

1 paper

NM_170662.5

p.P280H

c.839C>A