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

16 papers

NM_001991.5

p.Q571R

c.1712A>G

Surrounding Variants

1 paper

NM_001991.5

p.A577T

c.1729G>A

1 paper

NM_001991.5

p.T565A

c.1693A>G

1 paper

NM_001991.5

p.R579*

c.1735C>T

1 paper

NM_001991.5

p.R562H

c.1685G>A

1 paper

NM_001991.5

p.G560A

c.1679G>C

1 paper

NM_001991.5

p.P559S

c.1675C>T

1 paper

NM_001991.5

p.R557H

c.1670G>A

1 paper

NM_001991.5

p.R557C

c.1669C>T

1 paper

NM_001991.5

p.W595*

c.1784G>A

1 paper

NM_001991.5

p.W595*

c.1785G>A

1 paper

NM_001991.5

p.V599M

c.1795G>A

1 paper

NM_001991.5

p.C605F

c.1814G>T