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.N815S

c.2444A>G

Surrounding Variants

1 paper

NM_020227.4

p.N815fs

c.2443_2444fs

2 papers

NM_020227.4

p.N815D

c.2443A>G

11 papers

NM_020227.4

p.S814R

c.2442C>A

11 papers

NM_020227.4

p.S814R

c.2442C>G

1 paper

NM_020227.4

p.N815delFs

c.2443_2444delAA

11 papers

NM_020227.4

p.S814R

c.2440A>C

1 paper

NM_020227.4

p.H818N

c.2452C>A

1 paper

NM_020227.4

p.H818D

c.2452C>G

1 paper

NM_020227.4

p.H818L

c.2453A>T

1 paper

NM_020227.4

p.R811Q

c.2432G>A

5 papers

NM_020227.4

p.R821S

c.2463A>C

5 papers

NM_020227.4

p.R821S

c.2463A>T