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.I148T

c.443T>C

Surrounding Variants

1 paper

NM_001198.4

p.H146R

c.437A>G

1 paper

NM_001198.4

p.H145insFs

c.435dupC

1 paper

NM_001198.4

p.H145_H146del2

c.433_437del6

1 paper

NM_001198.4

p.E143E

c.429G>A

1 paper

NM_001198.4

p.E153K

c.457G>A

1 paper

NM_001198.4

p.E153fs

c.457_458fs

2 papers

NM_001198.4

p.E153*

c.457G>T

1 paper

NM_001198.4

p.E153insFs

c.458_459insAG

1 paper

NM_001198.4

p.E143G

c.428A>G

2 papers

NM_001198.4

p.E143_L144del2

c.427_431del6

1 paper

NM_001198.4

p.G142_E143del2

c.424_428del6

1 paper

NM_001198.4

p.R141_G142insC

c.421_425ins3