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.M102I

c.306G>T

Surrounding Variants

1 paper

NM_001198.4

p.M102I

c.306G>A

1 paper

NM_001198.4

p.M102I

c.306G>C

1 paper

NM_001198.4

p.E105*

c.313G>T

1 paper

NM_001198.4

p.G100*

c.298G>T

1 paper

NM_001198.4

p.G100fs

c.298_299fs

1 paper

NM_001198.4

p.G100_P108delFs

c.299_324del26

1 paper

NM_001198.4

p.I99F

c.295A>T

1 paper

NM_001198.4

p.V98A

c.293T>C

1 paper

NM_001198.4

p.I107K

c.320T>A

2 papers

NM_001198.4

p.I107R

c.320T>G

1 paper

NM_001198.4

p.E97_V98Splc

c.292-1G>T

1 paper

NM_001198.4

p.E97_V98Splc

c.292-2A>C