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.V224V

c.672C>T

Surrounding Variants

1 paper

NM_015874.6

p.V224V

c.672C>G

1 paper

NM_015874.6

p.E220delFs

c.658delG

1 paper

NM_015874.6

p.K236delFs

c.706_707delAA

1 paper

NM_015874.6

p.K236fs

c.706_707fs

1 paper

NM_015874.6

p.G243_M244insA

c.727_731ins3

1 paper

NM_015874.6

p.L246F

c.736C>T

1 paper

NM_015874.6

p.F208C

c.623T>G

1 paper

NM_015874.6

p.S200insFs

c.600dupT

1 paper

NM_015874.6

p.H191L

c.572A>T

1 paper

NM_015874.6

p.Y189C

c.566A>G

1 paper

NM_015874.6

p.T184R

c.551C>G

1 paper

NM_005349.4

p.S195P

c.583T>C