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.Q66*

c.196C>T

Surrounding Variants

1 paper

NM_001991.5

p.V65V

c.195C>T

1 paper

NM_001991.5

p.V68L

c.202G>C

1 paper

NM_001991.5

p.M71I

c.213G>T

1 paper

NM_001991.5

p.M71I

c.213G>C

1 paper

NM_001991.5

p.M71I

c.213G>A

1 paper

NM_001991.5

p.E58K

c.172G>A

1 paper

NM_001991.5

p.N57delFs

c.171delA

1 paper

NM_001991.5

p.Q54R

c.161A>G

1 paper

NM_001991.5

p.P78S

c.232C>T

2 papers

NM_001991.5

p.P78T

c.232C>A

1 paper

NM_001991.5

p.Q54K

c.160C>A

1 paper

NM_001991.5

p.F79delFs

c.237delA