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

1 paper

NM_001136239.4

p.P235insFs

c.704_705insG

Surrounding Variants

1 paper

NM_001136239.4

p.P235L

c.704C>T

1 paper

NM_001136239.4

p.P235P

c.705G>T

1 paper

NM_001136239.4

p.W240*

c.719G>A

1 paper

NM_001136239.4

p.R246insFs

c.736_737insAT

1 paper

NM_001136239.4

p.V248M

c.742G>A

1 paper

NM_001136239.4

p.H217insFs

c.650_651insT

1 paper

NM_001136239.4

p.P256R

c.767C>G

1 paper

NM_001136239.4

p.G214R

c.640G>A

1 paper

NM_001136239.4

p.G214R

c.640G>C

1 paper

NM_001136239.4

p.E209K

c.625G>A

1 paper

NM_001136239.4

p.I262_C263ins9

c.784_788ins27

3 papers

NM_001136239.4

p.I262V

c.784A>G