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.R839W

c.2515C>T

Surrounding Variants

5 papers

NM_020227.4

p.R842S

c.2524C>A

3 papers

NM_020227.4

p.R842H

c.2525G>A

1 paper

NM_020227.4

p.N843D

c.2527A>G

1 paper

NM_020227.4

p.V833I

c.2497G>A

1 paper

NM_020227.4

p.Y832*

c.2496T>A

1 paper

NM_020227.4

p.Y832*

c.2496T>G

1 paper

NM_020227.4

p.L848L

c.2544C>G

1 paper

NM_020227.4

p.R849S

c.2547A>C

1 paper

NM_020227.4

p.R849S

c.2547A>T

1 paper

NM_020227.4

p.Q851*

c.2551C>T

5 papers

NM_020227.4

p.R821S

c.2463A>C

5 papers

NM_020227.4

p.R821S

c.2463A>T