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.A303D

c.908C>A

Surrounding Variants

4 papers

NM_001198.4

p.R302Q

c.905G>A

1 paper

NM_001198.4

p.P300H

c.899C>A

1 paper

NM_001198.4

p.P300L

c.899C>T

2 papers

NM_001198.4

p.E307*

c.919G>T

1 paper

NM_001198.4

p.D308Y

c.922G>T

1 paper

NM_001198.4

p.V298I

c.892G>A

1 paper

NM_001198.4

p.R296L

c.887G>T

1 paper

NM_001198.4

p.L314M

c.940C>A

2 papers

NM_001198.4

p.L314P

c.941T>C

1 paper

NM_001198.4

p.G317W

c.949G>T

1 paper

NM_001198.4

p.P289L

c.866C>T

1 paper

NM_001198.4

p.I318insFs

c.952dupA