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.G164R

c.490G>A

Surrounding Variants

1 paper

NM_004456.5

p.G164R

c.490G>C

1 paper

NM_004456.5

p.G164insFs

c.491_492ins8

4 papers

NM_004456.5

p.C163S

c.487T>A

1 paper

NM_004456.5

p.G164delFs

c.492delC

1 paper

NM_004456.5

p.I166Fs

c.497delinsGAFs

1 paper

NM_004456.5

p.E162Splc

c.485-2A>G

1 paper

NM_004456.5

p.N167I

c.500A>T

1 paper

NM_004456.5

p.N167T

c.500A>C

1 paper

NM_004456.5

p.D168N

c.502G>A

1 paper

NM_004456.5

p.E169*

c.505G>T

1 paper

NM_004456.5

p.E169K

c.505G>A

1 paper

NM_004456.5

p.E169V

c.506A>T