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.D136del1

c.406_407delATC

Surrounding Variants

1 paper

NM_001203249.2

p.E128D

c.384A>C

1 paper

NM_004456.5

p.E137A

c.410A>C

2 papers

NM_004456.5

p.E137*

c.409G>T

1 paper

NM_004456.5

p.E137_V138ins10

c.409_413ins30

4 papers

NM_004456.5

p.D136G

c.407A>G

1 paper

NM_004456.5

p.D136A

c.407A>C

2 papers

NM_004456.5

p.L139*

c.416T>A

1 paper

NM_004456.5

p.G135delFs

c.403_404delCC

1 paper

NM_004456.5

p.D140fs

c.418_419fs

1 paper

NM_004456.5

p.G135V

c.404G>T

1 paper

NM_004456.5

p.D140H

c.418G>C

1 paper

NM_004456.5

p.G135A

c.404G>C