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.I182V

c.544A>G

Surrounding Variants

1 paper

NM_001198.4

p.I182fs

c.544_545fs

1 paper

NM_001198.4

p.I182delFs

c.545_546delTC

1 paper

NM_001198.4

p.I182fs

c.544_545fs

1 paper

NM_001198.4

p.N181K

c.543C>A

1 paper

NM_001198.4

p.N181_I182ins1

c.543_544insGTA

1 paper

NM_001198.4

p.N181K

c.543C>G

1 paper

NM_001198.4

p.Y183H

c.547T>C

1 paper

NM_001198.4

p.G179V

c.536G>T

1 paper

NM_001198.4

p.Y185D

c.553T>G

1 paper

NM_001198.4

p.N178I

c.533A>T

1 paper

NM_001198.4

p.N178_G179insA

c.532_536ins3

1 paper

NM_001198.4

p.G179_N193del15

c.535_578del45