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.S497F

c.1490C>T

Surrounding Variants

1 paper

NM_001198.4

p.T499P

c.1495A>C

2 papers

NM_001198.4

p.T499I

c.1496C>T

4 papers

NM_001198.4

p.G500R

c.1498G>A

4 papers

NM_001198.4

p.G500R

c.1498G>C

1 paper

NM_182907.3

p.S360N

c.1079G>A

2 papers

NM_001198.4

p.A502T

c.1504G>A

1 paper

NM_001198.4

p.A502A

c.1506C>T

1 paper

NM_001198.4

p.S504G

c.1510A>G

1 paper

NM_001198.4

p.P490S

c.1468C>T

1 paper

NM_001198.4

p.M505I

c.1515G>A

1 paper

NM_001198.4

p.M505I

c.1515G>C

1 paper

NM_001198.4

p.M505I

c.1515G>T