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

34 papers

NM_004456.5

p.V626M

c.1876G>A

NM_152998.3

p.V582M

c.1744G>A

NM_001203247.2

p.V621M

c.1861G>A

Surrounding Variants

1 paper

NM_004456.5

p.V626A

c.1877T>C

1 paper

NM_004456.5

p.D625D

c.1875C>T

1 paper

NM_004456.5

p.D625E

c.1875C>G

1 paper

NM_004456.5

p.D625fs

c.1873_1874fs

2 papers

NM_004456.5

p.A627T

c.1879G>A

1 paper

NM_004456.5

p.S624_V626delFs

c.1872_1876del5

1 paper

NM_004456.5

p.A627G

c.1880C>G

1 paper

NM_004456.5

p.G628C

c.1882G>T

1 paper

NM_004456.5

p.G628A

c.1883G>C

1 paper

NM_004456.5

p.G628D

c.1883G>A

1 paper

NM_004456.5

p.G628G

c.1884C>G

1 paper

NM_004456.5

p.G628_W629insFs

c.1884_1885insG