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.R363G

c.1087A>G

Surrounding Variants

1 paper

NM_001991.5

p.R362Q

c.1085G>A

1 paper

NM_001991.5

p.H365fs

c.1093_1094fs

1 paper

NM_001991.5

p.H366Y

c.1096C>T

1 paper

NM_001991.5

p.G359A

c.1076G>C

1 paper

NM_001991.5

p.I367V

c.1099A>G

1 paper

NM_001991.5

p.P353_R354del2

c.1057_1061del6

1 paper

NM_001991.5

p.R354H

c.1061G>A

1 paper

NM_001991.5

p.R354C

c.1060C>T

3 papers

NM_001991.5

p.M349L

c.1045A>T

3 papers

NM_001991.5

p.M349L

c.1045A>C

1 paper

NM_001991.5

p.K345N

c.1035G>T

1 paper

NM_001991.5

p.K345N

c.1035G>C