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.G155W

c.463G>T

Surrounding Variants

1 paper

NM_004456.5

p.G155R

c.463G>C

2 papers

NM_004456.5

p.G155R

c.463G>A

2 papers

NM_004456.5

p.D154E

c.462T>G

2 papers

NM_004456.5

p.D154E

c.462T>A

4 papers

NM_004456.5

p.Y153del1

c.457_459delATA

6 papers

NM_004456.5

p.K156E

c.466A>G

1 paper

NM_004456.5

p.G155insFs

c.465dupG

2 papers

NM_004456.5

p.Y153*

c.459T>G

2 papers

NM_004456.5

p.Y153*

c.459T>A

1 paper

NM_004456.5

p.I150_G155del6

c.448_464del18

9 papers

NM_004456.5

p.Y153C

c.458A>G

2 papers

NM_004456.5

p.K156fs

c.466_467fs