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.E198K

c.592G>A

Surrounding Variants

1 paper

NM_004456.5

p.E198E

c.594A>G

1 paper

NM_004456.5

p.K199E

c.595A>G

2 papers

NM_004456.5

p.K199M

c.596A>T

1 paper

NM_004456.5

p.K199R

c.596A>G

1 paper

NM_004456.5

p.K199N

c.597G>T

1 paper

NM_004456.5

p.K199N

c.597G>C

1 paper

NM_004456.5

p.Q200*

c.598C>T

2 papers

NM_004456.5

p.R196*

c.586A>T

1 paper

NM_004456.5

p.E195G

c.584A>G

2 papers

NM_004456.5

p.E195*

c.583G>T

1 paper

NM_004456.5

p.E195K

c.583G>A

1 paper

NM_004456.5

p.E194delFs

c.581delT