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.C19Y

c.56G>A

Surrounding Variants

1 paper

NM_001198.4

p.C19delFs

c.55delT

1 paper

NM_001198.4

p.K18M

c.53A>T

1 paper

NM_001198.4

p.K18fs

c.52_53fs

1 paper

NM_001198.4

p.S21C

c.62C>G

1 paper

NM_001198.4

p.S22G

c.64A>G

1 paper

NM_001198.4

p.S22N

c.65G>A

1 paper

NM_001198.4

p.A16delFs

c.47delC

1 paper

NM_001198.4

p.T23P

c.67A>C

1 paper

NM_001198.4

p.T23A

c.67A>G

1 paper

NM_001198.4

p.A15T

c.43G>A

1 paper

NM_001198.4

p.R25delFs

c.75delG

1 paper

NM_001198.4

p.R25fs

c.73_74fs