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.H353Y

c.1057C>T

Surrounding Variants

1 paper

NM_001198.4

p.P352L

c.1055C>T

10 papers

NM_001198.4

p.S354N

c.1061G>A

1 paper

NM_001198.4

p.P356H

c.1067C>A

1 paper

NM_001198.4

p.P356R

c.1067C>G

1 paper

NM_001198.4

p.S349I

c.1046G>T

1 paper

NM_001198.4

p.K348fs

c.1042_1043fs

1 paper

NM_001198.4

p.K348_S351del4

c.1042_1052del12

1 paper

NM_001198.4

p.S346R

c.1038C>A

1 paper

NM_001198.4

p.S346R

c.1038C>G

2 papers

NM_001198.4

p.T359M

c.1076C>T

1 paper

NM_001198.4

p.S346R

c.1036A>C

1 paper

NM_001198.4

p.S346fs

c.1036_1037fs