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.H29N

c.85C>A

Surrounding Variants

1 paper

NM_001136239.4

p.Q24Q

c.72G>A

1 paper

NM_001136239.4

p.L20M

c.58C>A

2 papers

NM_001136239.4

p.Y19_W23del5

c.55_68del15

1 paper

NM_001136239.4

p.K14R

c.41A>G

1 paper

NM_001136239.4

p.L13insFs

c.38_39insGC

1 paper

NM_001136239.4

p.A46S

c.136G>T

2 papers

NM_001136239.4

p.P47R

c.140C>G

1 paper

NM_001136239.4

p.L50F

c.148C>T

1 paper

NM_001136239.4

p.Q51_P52insPP

c.151_155ins6

1 paper

NM_001136239.4

p.Q51ins2

c.152_153ins6

2 papers

NM_001136239.4

p.P7_G8delFs

c.19_23del5

1 paper

NM_001136239.4

p.D6V

c.17A>T