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

4 papers

NM_005349.4

p.K169E

c.505A>G

Surrounding Variants

1 paper

NM_015874.6

p.K156insFs

c.467_468insT

1 paper

NM_015874.6

p.K157delFs

c.469_470delAA

1 paper

NM_015874.6

p.S145N

c.434G>A

1 paper

NM_015874.6

p.Y134N

c.400T>A

1 paper

NM_015874.6

p.V130L

c.388G>C

1 paper

NM_015874.6

p.M127_L128ins1

c.381_382insATC

1 paper

NM_015874.6

p.K124_H125del2

c.370_374del6

1 paper

NM_015874.6

p.R123*

c.367C>T

1 paper

NM_015874.6

p.A112G

c.335C>G

1 paper

NM_015874.6

p.N108S

c.323A>G

1 paper

NM_015874.6

p.N108H

c.322A>C

1 paper

NM_005349.4

p.S195P

c.583T>C