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.K788Q

c.2362A>C

Surrounding Variants

1 paper

NM_020227.4

p.D787E

c.2361T>A

1 paper

NM_020227.4

p.D787E

c.2361T>G

1 paper

NM_020227.4

p.D787G

c.2360A>G

2 papers

NM_020227.4

p.D787Y

c.2359G>T

4 papers

NM_020227.4

p.R786S

c.2358A>C

4 papers

NM_020227.4

p.R786S

c.2358A>T

4 papers

NM_020227.4

p.N790H

c.2368A>C

1 paper

NM_020227.4

p.N790I

c.2369A>T

2 papers

NM_020227.4

p.S793R

c.2377A>C

2 papers

NM_020227.4

p.S793R

c.2379T>A

2 papers

NM_020227.4

p.S793R

c.2379T>G

1 paper

NM_020227.4

p.G782W

c.2344G>T