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.E80K

c.238G>A

Surrounding Variants

5 papers

NM_001198.4

p.E80V

c.239A>T

2 papers

NM_001198.4

p.A79V

c.236C>T

1 paper

NM_001198.4

p.A81_L83del0

c.241_249del9

2 papers

NM_001198.4

p.A81T

c.241G>A

1 paper

NM_001198.4

p.A79P

c.235G>C

1 paper

NM_001198.4

p.Q78*

c.232C>T

1 paper

NM_001198.4

p.S82P

c.244T>C

1 paper

NM_001198.4

p.S82F

c.245C>T

1 paper

NM_001198.4

p.V77A

c.230T>C

2 papers

NM_001198.4

p.L83*

c.248T>A

2 papers

NM_001198.4

p.L83*

c.248T>G

1 paper

NM_001198.4

p.P84delFs

c.250delC