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.N466K

c.1398C>G

Surrounding Variants

1 paper

NM_170662.5

p.N466K

c.1398C>A

2 papers

NM_170662.5

p.V467I

c.1399G>A

5 papers

NM_170662.5

p.N466D

c.1396A>G

1 paper

NM_170662.5

p.N466H

c.1396A>C

2 papers

NM_001321786.1

p.R496*

c.1486C>T

NM_170662.5

p.R468*

c.1402C>T

1 paper

NM_170662.5

p.R468G

c.1402C>G

1 paper

NM_170662.5

p.R468Q

c.1403G>A

1 paper

NM_170662.5

p.K469N

c.1407G>T

1 paper

NM_170662.5

p.K469N

c.1407G>C

4 papers

NM_170662.5

p.R463W

c.1387C>T

1 paper

NM_170662.5

p.M461I

c.1383G>T

1 paper

NM_170662.5

p.M461I

c.1383G>C