Varaico: Literature-Extracted Genetic Variants

EZH2

1,616 papers

RefSeq Summary

This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes ove...

Pfam Domains

EZH2_WD-Bindingaa 39–68UCSCWD repeat binding protein EZH2

PRC2_HTH_1aa 158–249UCSCPolycomb repressive complex 2 tri-helical domain

Ezh2_MCSSaa 257–309UCSCEzh2, MCSS domain

preSET_CXCaa 559–590UCSCCXC domain

SETaa 623–727UCSCSET domain

Gene Aliases

HGNC Name

enhancer of zeste 2 polycomb repressive complex 2 subunit

HGNC Alias Symbols

ENX-1; KMT6; KMT6A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004456.5

p.L203_E204del1

c.609_611delTCC

Surrounding Variants

1 paper

NM_004456.5

p.D205fs

c.613_614fs

1 paper

NM_004456.5

p.H206Y

c.616C>T

1 paper

NM_004456.5

p.D205Fs

c.614delinsGAFs

1 paper

NM_004456.5

p.D205fs

c.613_614fs

2 papers

NM_004456.5

p.L203_E204del2

c.607_611del6

1 paper

NM_004456.5

p.E204D

c.612G>T

1 paper

NM_004456.5

p.E204D

c.612G>C

12 papers

NM_004456.5

p.R207*

c.619C>T

3 papers

NM_004456.5

p.E204*

c.610G>T

1 paper

NM_004456.5

p.R207Q

c.620G>A

1 paper

NM_004456.5

p.L203fs

c.607_608fs

1 paper

NM_004456.5

p.D208Y

c.622G>T