Varaico: Literature-Extracted Genetic Variants

PRDM6

162 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in...

Pfam Domains

PRDM2_PRaa 248–375UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2aa 501–523UCSCZinc finger, C2H2 type

zf-C2H2aa 529–551UCSCZinc finger, C2H2 type

zf-C2H2aa 557–578UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 6

HGNC Alias Symbols

PRISM; KMT8C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001136239.4

p.A291T

c.871G>A

Surrounding Variants

1 paper

NM_001136239.4

p.P284_R293del0

c.851_877del27

1 paper

NM_001136239.4

p.P283P

c.849C>T

1 paper

NM_001136239.4

p.L282L

c.846G>A

1 paper

NM_001136239.4

p.E300Q

c.898G>C

1 paper

NM_001136239.4

p.V280M

c.838G>A

1 paper

NM_001136239.4

p.E300_I301Splc

c.900+5G>A

1 paper

NM_001136239.4

p.P276A

c.826C>G

1 paper

NM_001136239.4

p.P276S

c.826C>T

1 paper

NM_001136239.4

p.C263S

c.788G>C

1 paper

NM_001136239.4

p.C263S

c.787T>A

1 paper

NM_001136239.4

p.I262_C263ins9

c.784_788ins27

3 papers

NM_001136239.4

p.I262V

c.784A>G