Varaico: Literature-Extracted Genetic Variants

PRDM4

43 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are k...

Pfam Domains

Zn_ribbon_PRDM4aa 365–402UCSCPR zinc knuckle motif

PRDM2_PRaa 413–539UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2aa 618–640UCSCZinc finger, C2H2 type

zf-C2H2aa 646–668UCSCZinc finger, C2H2 type

zf-C2H2aa 674–696UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 4

HGNC Alias Symbol

PFM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012406.4

p.H584fs

c.1750_1751fs

Surrounding Variants

1 paper

NM_012406.4

p.H584insFs

c.1751dupA

1 paper

NM_012406.4

p.S577C

c.1729A>T

2 papers

NM_012406.4

p.H566Q

c.1698C>G

2 papers

NM_012406.4

p.H566Q

c.1698C>A

1 paper

NM_012406.4

p.H606Y

c.1816C>T

1 paper

NM_012406.4

p.E558*

c.1672G>T

1 paper

NM_012406.4

p.P539T

c.1615C>A

1 paper

NM_012406.4

p.M488L

c.1462A>T

1 paper

NM_012406.4

p.M488L

c.1462A>C

2 papers

NM_012406.4

p.H462R

c.1385A>G

1 paper

NM_012406.4

p.E454*

c.1360G>T

1 paper

NM_012406.4

p.P393L

c.1178C>T