Varaico: Literature-Extracted Genetic Variants

PRDM14

51 papers

RefSeq Summary

This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays ...

Pfam Domains

PRDM2_PRaa 254–377UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2aa 461–483UCSCZinc finger, C2H2 type

zf-C2H2aa 489–511UCSCZinc finger, C2H2 type

zf-C2H2aa 546–568UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 14

HGNC Previous Names

PR domain containing 14; PR domain 14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024504.4

p.R439*

c.1315C>T

Surrounding Variants

1 paper

NM_024504.4

p.R439Q

c.1316G>A

1 paper

NM_024504.4

p.I449I

c.1347C>A

1 paper

NM_024504.4

p.I451V

c.1351A>G

1 paper

NM_024504.4

p.C424insFs

c.1271_1272insG

1 paper

NM_024504.4

p.C424fs

c.1270_1271fs

1 paper

NM_024504.4

p.R459W

c.1375C>T

1 paper

NM_024504.4

p.F470I

c.1408T>A

1 paper

NM_024504.4

p.R497W

c.1489A>T

1 paper

NM_024504.4

p.G513W

c.1537G>T

1 paper

NM_024504.4

p.K518T

c.1553A>C

1 paper

NM_024504.4

p.C519*

c.1557C>A

1 paper

NM_024504.4

p.S525C

c.1574C>G