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.Q33K

c.97C>A

Surrounding Variants

1 paper

NM_001991.5

p.L29H

c.86T>A

1 paper

NM_001991.5

p.L26P

c.77T>C

2 papers

NM_001991.5

p.R25Q

c.74G>A

1 paper

NM_001991.5

p.S21Y

c.62C>A

1 paper

NM_001991.5

p.Y14fs

c.40_41fs

1 paper

NM_001991.5

p.K10insFs

c.28_29insA

1 paper

NM_001991.5

p.P7T

c.19C>A

2 papers

NM_001991.5

p.P6insFs

c.16_17insA

1 paper

NM_001991.5

p.P6T

c.16C>A

1 paper

NM_001991.5

p.E2K

c.4G>A

1 paper

NM_001991.5

p.A44T

c.130G>A

1 paper

NM_001991.5

p.Q54K

c.160C>A