Varaico: Literature-Extracted Genetic Variants

PRDM9

190 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein cont...

Pfam Domains

KRABaa 27–65UCSCKRAB box

SSXRDaa 171–201UCSCSSXRD motif

PRDM2_PRaa 246–368UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2_5aa 387–408UCSCC2H2-type zinc finger

zf-C2H2aa 552–574UCSCZinc finger, C2H2 type

zf-C2H2aa 580–602UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 9

HGNC Previous Symbol

MSBP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020227.4

p.Y720*

c.2160T>G

Surrounding Variants

1 paper

NM_020227.4

p.Y720*

c.2160T>A

1 paper

NM_020227.4

p.E717K

c.2149G>A

1 paper

NM_020227.4

p.G716G

c.2148G>A

1 paper

NM_020227.4

p.G716G

c.2148G>T

1 paper

NM_020227.4

p.G716E

c.2147G>A

1 paper

NM_020227.4

p.T715K

c.2144C>A

1 paper

NM_020227.4

p.R727W

c.2179C>T

5 papers

NM_020227.4

p.T713R

c.2138C>G

1 paper

NM_020227.4

p.G728delFs

c.2184delC

2 papers

NM_020227.4

p.S730R

c.2188A>C

2 papers

NM_020227.4

p.S730R

c.2190C>A

2 papers

NM_020227.4

p.S730R

c.2190C>G