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.Q718*

c.2152C>T

Surrounding Variants

1 paper

NM_001991.5

p.A719V

c.2156C>T

1 paper

NM_001991.5

p.E721K

c.2161G>A

1 paper

NM_001991.5

p.E722V

c.2165A>T

1 paper

NM_001991.5

p.E722G

c.2165A>G

1 paper

NM_001991.5

p.Y727F

c.2180A>T

1 paper

NM_001991.5

p.R728G

c.2182A>G

1 paper

NM_001991.5

p.D706N

c.2116G>A

1 paper

NM_001991.5

p.R728G

c.2182A>G

1 paper

NM_001991.5

p.Q731E

c.2191C>G

1 paper

NM_001991.5

p.L735F

c.2203C>T

1 paper

NM_001991.5

p.L735V

c.2203C>G

1 paper

NM_001991.5

p.K736*

c.2206A>T