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

Selected Variant

1 paper

NM_014276.4

p.S97P

c.289T>C

Surrounding Variants

1 paper

NM_014276.4

p.P92R

c.275C>G

1 paper

NM_014276.4

p.P91T

c.271C>A

1 paper

NM_014276.4

p.T116M

c.347C>T

1 paper

NM_014276.4

p.T119K

c.356C>A

1 paper

NM_014276.4

p.R148M

c.443G>T

1 paper

NM_014276.4

p.F150F

c.450C>T

1 paper

NM_014276.4

p.R172Q

c.515G>A

1 paper

NM_014276.4

p.K190E

c.568A>G

1 paper

NM_014276.4

p.Q200*

c.598C>T

1 paper

NM_014276.4

p.S201fs

c.601_602fs

1 paper

NM_014276.4

p.S201delFs

c.602delC

1 paper

NM_014276.4

p.L207P

c.620T>C