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.S472*

c.1415C>A

Surrounding Variants

1 paper

NM_001198.4

p.S472*

c.1415C>G

1 paper

NM_001198.4

p.G474R

c.1420G>A

1 paper

NM_001198.4

p.G474R

c.1420G>C

1 paper

NM_001198.4

p.G474*

c.1420G>T

1 paper

NM_001198.4

p.S469*

c.1406C>A

1 paper

NM_001198.4

p.S469L

c.1406C>T

1 paper

NM_001198.4

p.R477G

c.1429A>G

7 papers

NM_001198.4

p.P467L

c.1400C>T

1 paper

NM_001198.4

p.P467S

c.1399C>T

1 paper

NM_001198.4

p.L478M

c.1432T>A

3 papers

NM_001198.4

p.Q480*

c.1438C>T

1 paper

NM_001198.4

p.P463L

c.1388C>T