Varaico: Literature-Extracted Genetic Variants

EZH1

140 papers

RefSeq Summary

EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cel...

Pfam Domains

EZH2_WD-Bindingaa 39–68UCSCWD repeat binding protein EZH2

PRC2_HTH_1aa 159–262UCSCPolycomb repressive complex 2 tri-helical domain

Ezh2_MCSSaa 270–322UCSCEzh2, MCSS domain

preSET_CXCaa 551–582UCSCCXC domain

Gene Aliases

HGNC Name

enhancer of zeste 1 polycomb repressive complex 2 subunit

HGNC Alias Symbols

KIAA0388; KMT6B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001991.5

p.L291V

c.871C>G

Surrounding Variants

1 paper

NM_001991.5

p.Q289*

c.865C>T

1 paper

NM_001991.5

p.G279delFs

c.835delC

1 paper

NM_001991.5

p.Y305Y

c.915C>T

1 paper

NM_001991.5

p.P271_Q272del1

c.812_814delGAG

1 paper

NM_001991.5

p.P266S

c.796C>T

1 paper

NM_001991.5

p.E259Q

c.775G>C

1 paper

NM_001991.5

p.R258Q

c.773G>A

1 paper

NM_001991.5

p.R258*

c.772C>T

1 paper

NM_001991.5

p.R256Splc

c.768-2A>G

1 paper

NM_001991.5

p.P311Splc

c.932-1G>A

1 paper

NM_001991.5

p.N317_V318del1

c.950_952delCAT

2 papers

NM_001991.5

p.K322R

c.965A>G