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.F584S

c.1751T>C

Surrounding Variants

1 paper

NM_001198.4

p.F584I

c.1750T>A

1 paper

NM_001198.4

p.K582R

c.1745A>G

1 paper

NM_001198.4

p.Q586L

c.1757A>T

2 papers

NM_001198.4

p.Q586H

c.1758G>C

2 papers

NM_001198.4

p.Q586H

c.1758G>T

1 paper

NM_001198.4

p.S588C

c.1763C>G

1 paper

NM_001198.4

p.N578Y

c.1732A>T

2 papers

NM_001198.4

p.C577S

c.1730G>C

2 papers

NM_001198.4

p.C577S

c.1729T>A

2 papers

NM_001198.4

p.E576K

c.1726G>A

1 paper

NM_001198.4

p.Y575*

c.1725C>A

1 paper

NM_001198.4

p.Y575*

c.1725C>G