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.N182K

c.546T>G

Surrounding Variants

1 paper

NM_004456.5

p.N182K

c.546T>A

2 papers

NM_004456.5

p.Y181*

c.543T>G

1 paper

NM_004456.5

p.D183E

c.549T>G

2 papers

NM_004456.5

p.Y181*

c.543T>A

1 paper

NM_004456.5

p.D183E

c.549T>A

1 paper

NM_004456.5

p.Y181C

c.542A>G

1 paper

NM_004456.5

p.Y181S

c.542A>C

1 paper

NM_004456.5

p.Q180delFs

c.540delT

1 paper

NM_004456.5

p.D184G

c.551A>G

73 papers

NM_004456.5

p.D185H

c.553G>C

NM_001203248.2

p.D176H

c.526G>C

2 papers

NM_004456.5

p.D185N

c.553G>A

2 papers

NM_004456.5

p.Q180L

c.539A>T