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.Q739P

c.2216A>C

Surrounding Variants

2 papers

NM_020227.4

p.R737S

c.2211A>C

2 papers

NM_020227.4

p.R737S

c.2211A>T

1 paper

NM_020227.4

p.R737T

c.2210G>C

1 paper

NM_020227.4

p.H734N

c.2200C>A

3 papers

NM_020227.4

p.E745K

c.2233G>A

1 paper

NM_020227.4

p.S733*

c.2198C>A

1 paper

NM_020227.4

p.S733*

c.2198C>G

1 paper

NM_020227.4

p.N731S

c.2192A>G

1 paper

NM_020227.4

p.N731H

c.2191A>C

3 papers

NM_020227.4

p.N731D

c.2191A>G

1 paper

NM_020227.4

p.N731Y

c.2191A>T

2 papers

NM_020227.4

p.S730R

c.2190C>A