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.A375V

c.1124C>T

Surrounding Variants

2 papers

NM_001198.4

p.L377F

c.1131G>C

2 papers

NM_001198.4

p.L377F

c.1131G>T

1 paper

NM_001198.4

p.N378D

c.1132A>G

2 papers

NM_001198.4

p.R371W

c.1111C>T

1 paper

NM_001198.4

p.E369G

c.1106A>G

1 paper

NM_001198.4

p.Y381C

c.1142A>G

1 paper

NM_001198.4

p.G382V

c.1145G>T

3 papers

NM_001198.4

p.S367F

c.1100C>T

1 paper

NM_001198.4

p.T383M

c.1148C>T

1 paper

NM_001198.4

p.G366V

c.1097G>T

1 paper

NM_001198.4

p.G366S

c.1096G>A

1 paper

NM_001198.4

p.G366R

c.1096G>C