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

3 papers

NM_001198.4

p.T333I

c.998C>T

Surrounding Variants

1 paper

NM_001198.4

p.T333S

c.997A>T

1 paper

NM_001198.4

p.P335Fs

c.1003delinsGAFs

1 paper

NM_001198.4

p.S331F

c.992C>T

1 paper

NM_001198.4

p.S332_T333del2

c.994_998del6

2 papers

NM_001198.4

p.P337H

c.1010C>A

1 paper

NM_001198.4

p.I329fs

c.985_986fs

2 papers

NM_001198.4

p.S338C

c.1013C>G

1 paper

NM_001198.4

p.P328insFs

c.984dupC

1 paper

NM_001198.4

p.R340S

c.1020A>C

1 paper

NM_001198.4

p.R340S

c.1020A>T

1 paper

NM_001198.4

p.S342T

c.1025G>C

1 paper

NM_001198.4

p.P343delFs

c.1029delC