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.E31D

c.93G>T

Surrounding Variants

1 paper

NM_001198.4

p.E31D

c.93G>C

1 paper

NM_001198.4

p.E31K

c.91G>A

1 paper

NM_001198.4

p.A30delFs

c.89delC

1 paper

NM_001198.4

p.T33T

c.99C>A

1 paper

NM_001198.4

p.L29*

c.86T>A

1 paper

NM_001198.4

p.Q27H

c.81G>C

1 paper

NM_001198.4

p.Q27R

c.80A>G

4 papers

NM_001198.4

p.F26L

c.78T>A

4 papers

NM_001198.4

p.F26L

c.78T>G

1 paper

NM_001198.4

p.M37V

c.109A>G

4 papers

NM_001198.4

p.F26L

c.76T>C

1 paper

NM_001198.4

p.F26fs

c.76_77fs