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

6 papers

NM_001991.5

p.A678G

c.2033C>G

Surrounding Variants

1 paper

NM_001991.5

p.R680Q

c.2039G>A

1 paper

NM_001991.5

p.I685N

c.2054T>A

1 paper

NM_001991.5

p.R686Q

c.2057G>A

1 paper

NM_001991.5

p.S691L

c.2072C>T

1 paper

NM_001991.5

p.V692L

c.2074G>T

1 paper

NM_001991.5

p.V692L

c.2074G>C

1 paper

NM_001321079.2

p.Y703*

c.2109T>G

1 paper

NM_001321079.2

p.Y703*

c.2109T>A

1 paper

NM_001991.5

p.S664C

c.1991C>G

1 paper

NM_001991.5

p.R655P

c.1964G>C

1 paper

NM_001991.5

p.R655H

c.1964G>A

1 paper

NM_001991.5

p.R654Q

c.1961G>A