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.R549Q

c.1646G>A

Surrounding Variants

1 paper

NM_001136239.4

p.R549*

c.1645C>T

1 paper

NM_001136239.4

p.T550P

c.1648A>C

1 paper

NM_001136239.4

p.T550N

c.1649C>A

1 paper

NM_001136239.4

p.H551P

c.1652A>C

1 paper

NM_001136239.4

p.H551Q

c.1653C>A

1 paper

NM_001136239.4

p.H551Q

c.1653C>G

1 paper

NM_001136239.4

p.N546K

c.1638C>A

1 paper

NM_001136239.4

p.N546K

c.1638C>G

1 paper

NM_001136239.4

p.G553R

c.1657G>A

1 paper

NM_001136239.4

p.G553R

c.1657G>C

1 paper

NM_001136239.4

p.K558R

c.1673A>G

1 paper

NM_001136239.4

p.R536C

c.1606C>T