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.S241N

c.722G>A

Surrounding Variants

2 papers

NM_020227.4

p.R237H

c.710G>A

1 paper

NM_020227.4

p.R247*

c.739A>T

1 paper

NM_020227.4

p.S251L

c.752C>T

1 paper

NM_020227.4

p.I253F

c.757A>T

1 paper

NM_020227.4

p.S228N

c.683G>A

1 paper

NM_020227.4

p.Q255R

c.764A>G

5 papers

NM_020227.4

p.K226M

c.677A>T

1 paper

NM_020227.4

p.G257W

c.769G>T

1 paper

NM_020227.4

p.L258I

c.772C>A

2 papers

NM_020227.4

p.T223I

c.668C>T

1 paper

NM_020227.4

p.W261R

c.781T>A

1 paper

NM_020227.4

p.W261R

c.781T>C