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_005349.4

p.K58delFs

c.173delA

Surrounding Variants

1 paper

NM_005349.4

p.Y60C

c.179A>G

1 paper

NM_015874.6

p.V42I

c.124G>A

1 paper

NM_015874.6

p.V42delFs

c.124_125delGT

1 paper

NM_015874.6

p.E50delFs

c.150delA

2 papers

NM_005349.4

p.E63G

c.188A>G

1 paper

NM_015874.6

p.L38_V42delFs

c.112_124del13

2 papers

NM_005349.4

p.R65G

c.193A>G

1 paper

NM_005349.4

p.R65T

c.194G>C

1 paper

NM_015874.6

p.V35V

c.105A>G

1 paper

NM_015874.6

p.N25D

c.73A>G

1 paper

NM_015874.6

p.M23K

c.68T>A

1 paper

NM_015874.6

p.M23V

c.67A>G