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

3 papers

NM_001198.4

p.W199*

c.597G>A

Surrounding Variants

3 papers

NM_001198.4

p.W199*

c.596G>A

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.E195G

c.584A>G

1 paper

NM_001198.4

p.E195K

c.583G>A

1 paper

NM_001198.4

p.E195*

c.583G>T

1 paper

NM_001198.4

p.A205T

c.613G>A

2 papers

NM_001198.4

p.Q194*

c.580C>T

1 paper

NM_001198.4

p.N193D

c.577A>G

1 paper

NM_001198.4

p.A192S

c.574G>T

1 paper

NM_001198.4

p.P191fs

c.571_572fs

1 paper

NM_001198.4

p.H209delFs

c.626_627delAC