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.Y248*

c.744C>A

Surrounding Variants

1 paper

NM_001198.4

p.Y248*

c.744C>G

1 paper

NM_001198.4

p.E247fs

c.739_740fs

1 paper

NM_001198.4

p.E247fs

c.739_740fs

1 paper

NM_001198.4

p.R246K

c.737G>A

1 paper

NM_001198.4

p.R246*

c.736A>T

3 papers

NM_001198.4

p.E252*

c.754G>T

2 papers

NM_001198.4

p.K245delFs

c.734_735delAG

1 paper

NM_001198.4

p.E252D

c.756A>C

1 paper

NM_001198.4

p.E252D

c.756A>T

1 paper

NM_001198.4

p.I253L

c.757A>C

1 paper

NM_001198.4

p.K241_S249del9

c.721_746del27

1 paper

NM_001198.4

p.C239*

c.717C>A