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.E178Q

c.532G>C

Surrounding Variants

1 paper

NM_001991.5

p.S172I

c.515G>T

1 paper

NM_001991.5

p.S172N

c.515G>A

1 paper

NM_001991.5

p.D188A

c.563A>C

1 paper

NM_001991.5

p.D188fs

c.562_563fs

1 paper

NM_001991.5

p.G193fs

c.577_578fs

1 paper

NM_001991.5

p.G193delFs

c.579delC

1 paper

NM_001991.5

p.D208Y

c.622G>T

1 paper

NM_001991.5

p.V211E

c.632T>A

1 paper

NM_001991.5

p.K214N

c.642G>T

1 paper

NM_001991.5

p.K214N

c.642G>C

1 paper

NM_001991.5

p.R217R

c.651A>T

1 paper

NM_001991.5

p.N223Y

c.667A>T