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

2 papers

NM_015874.6

p.C273insFs

c.817dupT

Surrounding Variants

1 paper

NM_015874.6

p.D265insFs

c.794dupA

1 paper

NM_015874.6

p.D264delFs

c.791delA

1 paper

NM_015874.6

p.D255A

c.764A>C

1 paper

NM_015874.6

p.I293_Q294insC

c.877_881ins3

1 paper

NM_005349.4

p.R265_K266Fs

c.794_797delinsCCFs

1 paper

NM_005349.4

p.I263K

c.788T>A

1 paper

NM_015874.6

p.A297T

c.889G>A

1 paper

NM_015874.6

p.E307E

c.921G>A

1 paper

NM_015874.6

p.A313T

c.937G>A

1 paper

NM_015874.6

p.W315*

c.945G>A

1 paper

NM_015874.6

p.I318N

c.953T>A

2 papers

NM_005349.4

p.S332R

c.994A>C