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

4 papers

NM_001198.4

p.R286P

c.857G>C

Surrounding Variants

1 paper

NM_001198.4

p.R286H

c.857G>A

4 papers

NM_001198.4

p.R286C

c.856C>T

2 papers

NM_001198.4

p.R284*

c.850A>T

1 paper

NM_001198.4

p.S288R

c.864C>A

1 paper

NM_001198.4

p.P289L

c.866C>T

2 papers

NM_001198.4

p.F283insFs

c.847dupT

1 paper

NM_001198.4

p.F283_M291del9

c.847_872del27

1 paper

NM_001198.4

p.D281E

c.843T>A

1 paper

NM_001198.4

p.D281E

c.843T>G

1 paper

NM_001198.4

p.D281N

c.841G>A

1 paper

NM_001198.4

p.E277*

c.829G>T

1 paper

NM_001198.4

p.R296L

c.887G>T