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.A74V

c.221C>T

Surrounding Variants

3 papers

NM_001136239.4

p.R72R

c.216G>T

1 paper

NM_001136239.4

p.R72P

c.215G>C

1 paper

NM_001136239.4

p.L76L

c.228C>T

1 paper

NM_001136239.4

p.A79P

c.235G>C

1 paper

NM_001136239.4

p.A79V

c.236C>T

1 paper

NM_001136239.4

p.T82R

c.245C>G

1 paper

NM_001136239.4

p.P66A

c.196C>G

1 paper

NM_001136239.4

p.P64H

c.191C>A

1 paper

NM_001136239.4

p.P64L

c.191C>T

1 paper

NM_001136239.4

p.P64A

c.190C>G

1 paper

NM_001136239.4

p.T88ins3

c.262_263ins9

1 paper

NM_001136239.4

p.T88S

c.262A>T