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.R655H

c.1964G>A

Surrounding Variants

1 paper

NM_001991.5

p.R655P

c.1964G>C

1 paper

NM_001991.5

p.R654Q

c.1961G>A

1 paper

NM_001991.5

p.R654*

c.1960C>T

1 paper

NM_001991.5

p.A652V

c.1955C>T

1 paper

NM_001991.5

p.S664C

c.1991C>G

1 paper

NM_001991.5

p.E645D

c.1935G>T

1 paper

NM_001991.5

p.E645D

c.1935G>C

11 papers

NM_001991.5

p.Y642F

c.1925A>T

1 paper

NM_001991.5

p.E637K

c.1909G>A

1 paper

NM_001991.5

p.K635_N636delFs

c.1903_1907del5

1 paper

NM_001991.5

p.K635N

c.1905G>T

1 paper

NM_001991.5

p.K635N

c.1905G>C