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

2 papers

NM_001991.5

p.K228*

c.682A>T

Surrounding Variants

2 papers

NM_001991.5

p.K228E

c.682A>G

1 paper

NM_001991.5

p.N223Y

c.667A>T

1 paper

NM_001991.5

p.M243V

c.727A>G

1 paper

NM_001991.5

p.F244L

c.732C>A

1 paper

NM_001991.5

p.P245P

c.735T>G

1 paper

NM_001991.5

p.P250S

c.748C>T

1 paper

NM_001991.5

p.P250L

c.749C>T

1 paper

NM_001991.5

p.P250Q

c.749C>A

1 paper

NM_001991.5

p.N247_D252del6

c.739_755del18

1 paper

NM_001991.5

p.R256Splc

c.768-2A>G

1 paper

NM_001991.5

p.R258*

c.772C>T

1 paper

NM_001991.5

p.R258Q

c.773G>A