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.S458P

c.1372T>C

Surrounding Variants

2 papers

NM_170662.5

p.L459F

c.1377G>T

2 papers

NM_170662.5

p.L459F

c.1377G>C

1 paper

NM_170662.5

p.M460V

c.1378A>G

1 paper

NM_170662.5

p.M460I

c.1380G>T

1 paper

NM_170662.5

p.M460I

c.1380G>C

1 paper

NM_170662.5

p.M460I

c.1380G>A

1 paper

NM_170662.5

p.R455H

c.1364G>A

1 paper

NM_170662.5

p.M461I

c.1383G>T

1 paper

NM_170662.5

p.M461I

c.1383G>C

1 paper

NM_170662.5

p.M461I

c.1383G>A

2 papers

NM_170662.5

p.D454A

c.1361A>C

4 papers

NM_170662.5

p.R463W

c.1387C>T