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

1–12 of 195 variants

16 papers

NM_001991.5

p.Q571R

c.1712A>G

11 papers

NM_001991.5

p.Y642F

c.1925A>T

6 papers

NM_001991.5

p.A678G

c.2033C>G

3 papers

NM_001991.5

p.M349L

c.1045A>T

3 papers

NM_001991.5

p.M349L

c.1045A>C

3 papers

NM_001991.5

p.D745N

c.2233G>A

2 papers

NM_001991.5

p.P6insFs

c.16_17insA

2 papers

NM_001991.5

p.R25Q

c.74G>A

2 papers

NM_001991.5

p.Q66*

c.196C>T

2 papers

NM_001991.5

p.P78T

c.232C>A

2 papers

NM_001991.5

p.E178Q

c.532G>C

2 papers

NM_001991.5

p.K228*

c.682A>T