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

8 papers

NM_001198.4

p.E97D

c.291G>T

Surrounding Variants

1 paper

NM_001198.4

p.E97E

c.291G>A

8 papers

NM_001198.4

p.E97D

c.291G>C

4 papers

NM_001198.4

p.E97_V98Splc

c.291+1G>A

1 paper

NM_001198.4

p.E97_V98Splc

c.291+1G>T

2 papers

NM_001198.4

p.E97_V98Splc

c.291+2T>A

1 paper

NM_001198.4

p.E96K

c.286G>A

2 papers

NM_001198.4

p.S95N

c.284G>A

1 paper

NM_001198.4

p.S95T

c.284G>C

1 paper

NM_001198.4

p.S95fs

c.283_284fs

1 paper

NM_001198.4

p.N94N

c.282C>T

1 paper

NM_001198.4

p.S95_E97del0

c.283_291del9

1 paper

NM_001198.4

p.T93I

c.278C>T