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.E114D

c.342A>T

Surrounding Variants

1 paper

NM_018699.4

p.E114D

c.342A>C

1 paper

NM_018699.4

p.D112del1

c.334_335delATC

1 paper

NM_018699.4

p.T117M

c.350C>T

8 papers

NM_018699.4

p.Y107C

c.320A>G

2 papers

NM_018699.4

p.E129A

c.386A>C

1 paper

NM_018699.4

p.E132insFs

c.394_395insC

1 paper

NM_018699.4

p.E132fs

c.394_395fs

4 papers

NM_018699.4

p.E134*

c.400G>T

1 paper

NM_018699.4

p.R150G

c.448A>G

2 papers

NM_018699.4

p.K164I

c.491A>T

1 paper

NM_018699.4

p.D180Y

c.538G>T

1 paper

NM_018699.4

p.H185Y

c.553C>T