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.R442R

c.1326G>A

Surrounding Variants

2 papers

NM_001198.4

p.P441L

c.1322C>T

1 paper

NM_001198.4

p.N436S

c.1307A>G

1 paper

NM_001198.4

p.N436D

c.1306A>G

10 papers

NM_001198.4

p.L450F

c.1348C>T

1 paper

NM_001198.4

p.I434I

c.1302C>T

1 paper

NM_001198.4

p.I434T

c.1301T>C

1 paper

NM_001198.4

p.G452S

c.1354G>A

1 paper

NM_001198.4

p.G454delFs

c.1360_1361delGG

1 paper

NM_182907.3

p.G319R

c.955G>A

1 paper

NM_001198.4

p.M431I

c.1293G>A

1 paper

NM_001198.4

p.M431I

c.1293G>C

1 paper

NM_001198.4

p.M431I

c.1293G>T