Varaico: Literature-Extracted Genetic Variants

RBPJ

158 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when...

Pfam Domains

LAG1-DNAbindaa 48–178UCSCLAG1, DNA binding

BTDaa 206–328UCSCBeta-trefoil DNA-binding domain

TIG_SUHaa 354–444UCSCTIG domain

Gene Aliases

HGNC Name

recombination signal binding protein for immunoglobulin kappa J region

HGNC Previous Symbols

IGKJRB1; RBPSUH

Papers

RefSeq ID

Protein change

DNA change

1–12 of 105 variants

4 papers

NM_005349.4

p.K169E

c.505A>G

3 papers

NM_015874.6

p.S65S

c.195T>C

2 papers

NM_015874.6

p.M1insFs

c.2dupT

2 papers

NM_005349.4

p.E63G

c.188A>G

2 papers

NM_005349.4

p.R65G

c.193A>G

2 papers

NM_005349.4

p.F66V

c.196T>G

2 papers

NM_015874.6

p.G78G

c.234T>C

2 papers

NM_015874.6

p.C273insFs

c.817dupT

2 papers

NM_005349.4

p.S332R

c.994A>C

2 papers

NM_005349.4

p.S332R

c.996C>A

2 papers

NM_005349.4

p.S332R

c.996C>G

2 papers

NM_015874.6

p.L335V

c.1003C>G