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.Q571*

c.1711C>T

Surrounding Variants

1 paper

NM_001136239.4

p.R574Q

c.1721G>A

1 paper

NM_001136239.4

p.S565R

c.1695C>A

1 paper

NM_001136239.4

p.S565R

c.1695C>G

1 paper

NM_001136239.4

p.S565R

c.1693A>C

1 paper

NM_001136239.4

p.R577W

c.1729C>T

1 paper

NM_001136239.4

p.C582Y

c.1745G>A

1 paper

NM_001136239.4

p.K558Splc

c.1674-2A>G

1 paper

NM_001136239.4

p.T586delFs

c.1756delA

3 papers

NM_001136239.4

p.E587*

c.1759G>T

1 paper

NM_001136239.4

p.S588N

c.1763G>A

1 paper

NM_001136239.4

p.K558Splc

c.1674-2250G>A

1 paper

NM_001136239.4

p.K558R

c.1673A>G