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.V679_V680insAG

c.2035_2039ins6

Surrounding Variants

1 paper

NM_001203247.2

p.V674L

c.2020G>T

1 paper

NM_001203247.2

p.V674L

c.2020G>C

NM_004456.5

p.V679L

c.2035G>C

10 papers

NM_004456.5

p.V679M

c.2035G>A

2 papers

NM_004456.5

p.F678fs

c.2032_2033fs

2 papers

NM_004456.5

p.V679E

c.2036T>A

1 paper

NM_004456.5

p.D677_F678del1

c.2030_2032delAAT

1 paper

NM_004456.5

p.V679V

c.2037G>C

1 paper

NM_004456.5

p.V680L

c.2038G>T

1 paper

NM_004456.5

p.V680L

c.2038G>C

1 paper

NM_004456.5

p.V680M

c.2038G>A

2 papers

NM_004456.5

p.D677_F678insFs

c.2031_2032ins4

2 papers

NM_004456.5

p.D677V

c.2030A>T