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

61 papers

NM_004456.5

p.R690H

c.2069G>A

NM_001203247.2

p.R685H

c.2054G>A

Surrounding Variants

1 paper

NM_004456.5

p.R690L

c.2069G>T

1 paper

NM_004456.5

p.I689_R690del1

c.2066_2068delGAA

16 papers

NM_004456.5

p.R690C

c.2068C>T

NM_001203247.2

p.R685C

c.2053C>T

1 paper

NM_004456.5

p.R690G

c.2068C>G

1 paper

NM_004456.5

p.F691V

c.2071T>G

1 paper

NM_004456.5

p.F691L

c.2071T>C

1 paper

NM_004456.5

p.R684_I689delFs

c.2051_2066del16

1 paper

NM_004456.5

p.F691C

c.2072T>G

1 paper

NM_004456.5

p.F691S

c.2072T>C

1 paper

NM_004456.5

p.I689T

c.2066T>C

1 paper

NM_004456.5

p.F691L

c.2073T>G

1 paper

NM_004456.5

p.F691L

c.2073T>A