Varaico: Literature-Extracted Genetic Variants

PRDM1

485 papers

RefSeq Summary

This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter...

Pfam Domains

PRDM2_PRaa 87–211UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2aa 575–597UCSCZinc finger, C2H2 type

zf-C2H2aa 603–625UCSCZinc finger, C2H2 type

zf-C2H2_6aa 631–656UCSCC2H2-type zinc finger

zf-C2H2aa 659–681UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 1

HGNC Previous Symbol

BLIMP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001198.4

p.Y60insFs

c.178_179insA

Surrounding Variants

1 paper

NM_001198.4

p.Y60N

c.178T>A

1 paper

NM_001198.4

p.Y60fs

c.178_179fs

1 paper

NM_001198.4

p.Y60_H65del0

c.179_193del15

2 papers

NM_001198.4

p.Y60*

c.180C>A

2 papers

NM_001198.4

p.Y60*

c.180C>G

1 paper

NM_001198.4

p.T59I

c.176C>T

1 paper

NM_001198.4

p.T59S

c.175A>T

1 paper

NM_001198.4

p.C58R

c.172T>C

1 paper

NM_001198.4

p.K57fs

c.169_170fs

1 paper

NM_001198.4

p.N63S

c.188A>G

1 paper

NM_001198.4

p.E56D

c.168G>C

1 paper

NM_001198.4

p.E56_K57insFs

c.168_169insC