Varaico: Literature-Extracted Genetic Variants

PRDM5

92 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

PRDM2_PRaa 10–134UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2aa 199–220UCSCZinc finger, C2H2 type

zf-metaa 234–255UCSCZinc-finger of C2H2 type

zf-C2H2aa 262–287UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 5

HGNC Alias Symbol

PFM2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018699.4

p.E400K

c.1198G>A

Surrounding Variants

2 papers

NM_018699.4

p.L412L

c.1234T>C

1 paper

NM_018699.4

p.P416L

c.1247C>T

2 papers

NM_018699.4

p.Q420*

c.1258C>T

1 paper

NM_018699.4

p.K468*

c.1402A>T

1 paper

NM_018699.4

p.T484A

c.1450A>G

6 papers

NM_018699.4

p.V506fs

c.1516_1517fs

5 papers

NM_018699.4

p.V506_R509delFs

c.1517_1527del11