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.G263_E277del0

c.788_829del42

Surrounding Variants

1 paper

NM_001198.4

p.K264R

c.791A>G

1 paper

NM_001198.4

p.P260T

c.778C>A

1 paper

NM_001198.4

p.D265N

c.793G>A

1 paper

NM_001198.4

p.S258S

c.774C>T

1 paper

NM_001198.4

p.Y267*

c.801C>A

1 paper

NM_001198.4

p.Y267*

c.801C>G

1 paper

NM_001198.4

p.R268C

c.802C>T

1 paper

NM_001198.4

p.N270insFs

c.810dupC

1 paper

NM_001198.4

p.I271V

c.811A>G

1 paper

NM_001198.4

p.I271T

c.812T>C

1 paper

NM_001198.4

p.I253L

c.757A>C

1 paper

NM_001198.4

p.E252D

c.756A>C