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

1–12 of 646 variants

12 papers

NM_001198.4

p.D203E

c.609C>A

12 papers

NM_001198.4

p.D203E

c.609C>G

10 papers

NM_001198.4

p.S354N

c.1061G>A

10 papers

NM_001198.4

p.L450F

c.1348C>T

9 papers

NM_001198.4

p.G74S

c.220G>A

8 papers

NM_001198.4

p.E97D

c.291G>C

8 papers

NM_001198.4

p.E97D

c.291G>T

7 papers

NM_001198.4

p.I117M

c.351A>G

7 papers

NM_001198.4

p.K188E

c.562A>G

7 papers

NM_001198.4

p.P467L

c.1400C>T

5 papers

NM_001198.4

p.E80V

c.239A>T

5 papers

NM_001198.4

p.A408P

c.1222G>C