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

1–12 of 138 variants

3 papers

NM_001136239.4

p.R72R

c.216G>T

3 papers

NM_001136239.4

p.I262V

c.784A>G

3 papers

NM_001136239.4

p.A291T

c.871G>A

3 papers

NM_001136239.4

p.R549Q

c.1646G>A

3 papers

NM_001136239.4

p.E587*

c.1759G>T

2 papers

NM_001136239.4

p.P7_G8delFs

c.19_23del5

2 papers

NM_001136239.4

p.Y19_W23del5

c.55_68del15

2 papers

NM_001136239.4

p.P47R

c.140C>G

2 papers

NM_001136239.4

p.R198S

c.592C>A

1 paper

NM_001136239.4

p.M1insFs

c.1_2insA

1 paper

NM_001136239.4

p.M1insFs

c.2dupT

1 paper

NM_001136239.4

p.M1V

c.1A>G