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

Selected Variant

1 paper

NM_015874.6

p.S80A

c.238T>G

Surrounding Variants

1 paper

NM_015874.6

p.E81_Q82insFs

c.243_244insA

2 papers

NM_015874.6

p.G78G

c.234T>C

1 paper

NM_015874.6

p.S84delFs

c.252delT

1 paper

NM_015874.6

p.K69insFs

c.207dupA

1 paper

NM_015874.6

p.G66V

c.197G>T

3 papers

NM_015874.6

p.S65S

c.195T>C

1 paper

NM_015874.6

p.S95R

c.283A>C

1 paper

NM_015874.6

p.S65G

c.193A>G

1 paper

NM_015874.6

p.S95R

c.285T>A

1 paper

NM_015874.6

p.S95R

c.285T>G

1 paper

NM_015874.6

p.L62F

c.184C>T

1 paper

NM_015874.6

p.E98insFs

c.293_294insC