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

3 papers

NM_001198.4

p.A130T

c.388G>A

Surrounding Variants

1 paper

NM_001198.4

p.N131Y

c.391A>T

1 paper

NM_001198.4

p.R132G

c.394A>G

1 paper

NM_001198.4

p.R132W

c.394A>T

1 paper

NM_001198.4

p.V126D

c.377T>A

1 paper

NM_001198.4

p.T125R

c.374C>G

1 paper

NM_001198.4

p.D124fs

c.370_371fs

2 papers

NM_001198.4

p.W136*

c.407G>A

2 papers

NM_001198.4

p.W136*

c.408G>A

1 paper

NM_001198.4

p.T122T

c.366C>G

1 paper

NM_001198.4

p.E119*

c.355G>T

1 paper

NM_001198.4

p.G118R

c.352G>C

7 papers

NM_001198.4

p.I117M

c.351A>G