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

2 papers

NM_001198.4

p.S405L

c.1214C>T

Surrounding Variants

1 paper

NM_001198.4

p.Y406C

c.1217A>G

1 paper

NM_001198.4

p.I403delFs

c.1209delC

1 paper

NM_001198.4

p.I403F

c.1207A>T

5 papers

NM_001198.4

p.A408P

c.1222G>C

1 paper

NM_001198.4

p.H409Q

c.1227C>A

1 paper

NM_001198.4

p.H409Q

c.1227C>G

1 paper

NM_001198.4

p.Y410*

c.1230C>A

1 paper

NM_001198.4

p.Y410*

c.1230C>G

1 paper

NM_001198.4

p.L398R

c.1193T>G

1 paper

NM_001198.4

p.F413fs

c.1237_1238fs

1 paper

NM_001198.4

p.H397Y

c.1189C>T

1 paper

NM_001198.4

p.L414I

c.1240C>A