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.E51G

c.152A>G

Surrounding Variants

2 papers

NM_001198.4

p.A52D

c.155C>A

1 paper

NM_001198.4

p.A52insFs

c.156dupT

1 paper

NM_001198.4

p.T50S

c.148A>T

1 paper

NM_001198.4

p.W49*

c.147G>A

1 paper

NM_001198.4

p.E53*

c.157G>T

1 paper

NM_001198.4

p.E53D

c.159G>C

1 paper

NM_001198.4

p.W49R

c.145T>A

1 paper

NM_001198.4

p.W49R

c.145T>C

1 paper

NM_001198.4

p.W49fs

c.145_146fs

3 papers

NM_001198.4

p.L48fs

c.142_143fs

3 papers

NM_001198.4

p.L48delFs

c.143_144delTG

3 papers

NM_001198.4

p.L48fs

c.142_143fs