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_182907.3

p.G319R

c.955G>A

Surrounding Variants

1 paper

NM_001198.4

p.G454delFs

c.1360_1361delGG

1 paper

NM_001198.4

p.G452S

c.1354G>A

1 paper

NM_001198.4

p.G454fs

c.1360_1361fs

1 paper

NM_001198.4

p.S455N

c.1364G>A

10 papers

NM_001198.4

p.L450F

c.1348C>T

1 paper

NM_001198.4

p.L456L

c.1368G>A

1 paper

NM_001198.4

p.P457fs

c.1369_1370fs

1 paper

NM_001198.4

p.H458_P459insAG

c.1372_1376ins6

1 paper

NM_001198.4

p.P459delins

c.1376_1377delinsTT

1 paper

NM_001198.4

p.P463S

c.1387C>T

1 paper

NM_001198.4

p.P463L

c.1388C>T

1 paper

NM_001198.4

p.R442R

c.1326G>A