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.A205T

c.613G>A

Surrounding Variants

12 papers

NM_001198.4

p.D203E

c.609C>A

12 papers

NM_001198.4

p.D203E

c.609C>G

1 paper

NM_001198.4

p.H209delFs

c.626_627delAC

1 paper

NM_001198.4

p.H209fs

c.625_626fs

1 paper

NM_001198.4

p.H209Q

c.627C>A

1 paper

NM_001198.4

p.H209Q

c.627C>G

3 papers

NM_001198.4

p.W199*

c.597G>A

3 papers

NM_001198.4

p.W199*

c.596G>A

1 paper

NM_001198.4

p.Y212fs

c.634_635fs

1 paper

NM_001198.4

p.Y212delFs

c.636delT

1 paper

NM_001198.4

p.Y212*

c.636T>A

1 paper

NM_001198.4

p.Y212*

c.636T>G