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.R346*

c.1036C>T

Surrounding Variants

3 papers

NM_018699.4

p.S356T

c.1066T>A

2 papers

NM_018699.4

p.D373fs

c.1117_1118fs

1 paper

NM_018699.4

p.D373_P375Fs

c.1117_1123delinsTTTAATGCTTACAAATGTTTGFs

1 paper

NM_018699.4

p.D373_P375delFs

c.1117_1123del7

1 paper

NM_018699.4

p.H394_K395insC

c.1180_1184ins3

1 paper

NM_018699.4

p.E344Splc

c.1030+45A>G

1 paper

NM_018699.4

p.E344Splc

c.1030+35C>A

1 paper

NM_018699.4

p.S343*

c.1028C>A

1 paper

NM_018699.4

p.Q334_K336del3

c.1000_1007del9

7 papers

NM_018699.4

p.C325delFs

c.974delC

1 paper

NM_018699.4

p.C325S

c.973T>A

5 papers

NM_018699.4

p.C325fs

c.973_974fs