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.R28K

c.83G>A

Surrounding Variants

1 paper

NM_018699.4

p.A26insFs

c.77dupC

5 papers

NM_018699.4

p.K31_G32Splc

c.93+1G>A

5 papers

NM_018699.4

p.K31_G32Splc

c.93+2T>C

1 paper

NM_018699.4

p.L23_Y24insFs

c.69_70dupCT

1 paper

NM_018699.4

p.Y24fs

c.70_71fs

4 papers

NM_018699.4

p.K31_G32Splc

c.93+5G>A

1 paper

NM_018699.4

p.R9K

c.26G>A

1 paper

NM_018699.4

p.D8Y

c.22G>T

3 papers

NM_018699.4

p.V6G

c.17T>G

1 paper

NM_018699.4

p.V6M

c.16G>A

1 paper

NM_018699.4

p.L2insFs

c.5_6insT

1 paper

NM_018699.4

p.M1insFs

c.3dupG