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.G156ins5

c.466_467ins15

Surrounding Variants

1 paper

NM_001136239.4

p.G152G

c.456T>A

1 paper

NM_001136239.4

p.G152D

c.455G>A

1 paper

NM_001136239.4

p.G152_G153ins6

c.454_458ins18

1 paper

NM_001136239.4

p.P147P

c.441C>G

1 paper

NM_001136239.4

p.R167S

c.499C>A

1 paper

NM_001136239.4

p.S143C

c.428C>G

1 paper

NM_001136239.4

p.D174H

c.520G>C

1 paper

NM_001136239.4

p.Y175delFs

c.525delT

1 paper

NM_001136239.4

p.E184K

c.550G>A

1 paper

NM_001136239.4

p.E184Q

c.550G>C

1 paper

NM_001136239.4

p.L122L

c.366A>T

1 paper

NM_001136239.4

p.P117ins1

c.350_351insCTT