Varaico: Literature-Extracted Genetic Variants

RBPJL

39 papers

RefSeq Summary

This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch re...

Pfam Domains

LAG1-DNAbindaa 69–206UCSCLAG1, DNA binding

BTDaa 234–359UCSCBeta-trefoil DNA-binding domain

TIG_SUHaa 385–475UCSCTIG domain

Gene Aliases

HGNC Name

recombination signal binding protein for immunoglobulin kappa J region like

HGNC Previous Symbol

RBPSUHL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

2 papers

NM_014276.4

p.T280M

c.839C>T

1 paper

NM_014276.4

p.S31G

c.91A>G

1 paper

NM_014276.4

p.E32K

c.94G>A

1 paper

NM_014276.4

p.L53L

c.159G>A

1 paper

NM_014276.4

p.C65C

c.195T>C

1 paper

NM_014276.4

p.R70Q

c.209G>A

1 paper

NM_014276.4

p.S80*

c.239C>A

1 paper

NM_014276.4

p.S80*

c.239C>G

1 paper

NM_014276.4

p.P91T

c.271C>A

1 paper

NM_014276.4

p.P92R

c.275C>G

1 paper

NM_014276.4

p.S97P

c.289T>C

1 paper

NM_014276.4

p.T116M

c.347C>T