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.I81M

c.243C>G

Surrounding Variants

1 paper

NM_020227.4

p.Q84*

c.250C>T

1 paper

NM_020227.4

p.R78R

c.234G>A

2 papers

NM_020227.4

p.R77Q

c.230G>A

7 papers

NM_020227.4

p.R77*

c.229C>T

1 paper

NM_020227.4

p.D87D

c.261C>T

1 paper

NM_020227.4

p.F73delFs

c.219delC

1 paper

NM_020227.4

p.F73fs

c.217_218fs

1 paper

NM_020227.4

p.P71L

c.212C>T

1 paper

NM_020227.4

p.D92N

c.274G>A

1 paper

NM_020227.4

p.R70L

c.209G>T

1 paper

NM_020227.4

p.R70*

c.208C>T

1 paper

NM_020227.4

p.A68T

c.202G>A