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.L549I

c.1645C>A

Surrounding Variants

2 papers

NM_001198.4

p.I550L

c.1648A>C

1 paper

NM_001198.4

p.K551delFs

c.1651delA

1 paper

NM_001198.4

p.K551fs

c.1651_1652fs

1 paper

NM_001198.4

p.K551*

c.1651A>T

1 paper

NM_001198.4

p.A546T

c.1636G>A

1 paper

NM_001198.4

p.E545D

c.1635A>C

1 paper

NM_001198.4

p.E545D

c.1635A>T

1 paper

NM_001198.4

p.E545A

c.1634A>C

2 papers

NM_001198.4

p.E545G

c.1634A>G

1 paper

NM_001198.4

p.R554_N555delFs

c.1660_1664del5

2 papers

NM_001198.4

p.E545K

c.1633G>A

1 paper

NM_001198.4

p.E545_A546del2

c.1633_1637del6