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.V85I

c.253G>A

Surrounding Variants

1 paper

NM_018699.4

p.R83P

c.248G>C

2 papers

NM_018699.4

p.R83H

c.248G>A

4 papers

NM_018699.4

p.R83C

c.247C>T

1 paper

NM_018699.4

p.P89Q

c.266C>A

1 paper

NM_018699.4

p.N80S

c.239A>G

1 paper

NM_018699.4

p.Q91*

c.271C>T

1 paper

NM_018699.4

p.A98S

c.292G>T

1 paper

NM_018699.4

p.K64*

c.190A>T

2 papers

NM_018699.4

p.R61H

c.182G>A