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.S232N

c.695G>A

Surrounding Variants

1 paper

NM_001198.4

p.T233I

c.698C>T

1 paper

NM_001198.4

p.E234Q

c.700G>C

1 paper

NM_001198.4

p.E234*

c.700G>T

1 paper

NM_001198.4

p.Q230*

c.688C>T

1 paper

NM_001198.4

p.K235I

c.704A>T

1 paper

NM_001198.4

p.L228L

c.682C>T

1 paper

NM_001198.4

p.E237D

c.711A>T

2 papers

NM_001198.4

p.L238insFs

c.712_713insT

2 papers

NM_001198.4

p.C239fs

c.715_716fs

1 paper

NM_001198.4

p.C239*

c.717C>A

2 papers

NM_001198.4

p.Q225*

c.673C>T

1 paper

NM_001198.4

p.T224fs

c.670_671fs