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.L415fs

c.1243_1244fs

Surrounding Variants

1 paper

NM_001198.4

p.L415F

c.1245G>C

1 paper

NM_001198.4

p.L415F

c.1245G>T

2 papers

NM_001198.4

p.L414P

c.1241T>C

1 paper

NM_001198.4

p.L414I

c.1240C>A

1 paper

NM_001198.4

p.F413fs

c.1237_1238fs

2 papers

NM_001198.4

p.P417R

c.1250C>G

1 paper

NM_001198.4

p.Y418fs

c.1252_1253fs

1 paper

NM_001198.4

p.Y418fs

c.1252_1253fs

2 papers

NM_001198.4

p.G419_I434del16

c.1255_1301del48

1 paper

NM_001198.4

p.G419S

c.1255G>A

1 paper

NM_001198.4

p.Y410*

c.1230C>A

1 paper

NM_001198.4

p.Y410*

c.1230C>G