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

3 papers

NM_004456.5

p.D187del1

c.559_560delATC

Surrounding Variants

1 paper

NM_004456.5

p.D189_G190ins0

c.566_568dupATG

1 paper

NM_004456.5

p.D185_G190del0

c.554_568del15

2 papers

NM_004456.5

p.G190*

c.568G>T

1 paper

NM_004456.5

p.G190delins

c.569_570delinsAT

1 paper

NM_004456.5

p.D189V

c.566A>T

1 paper

NM_004456.5

p.D189H

c.565G>C

1 paper

NM_004456.5

p.D191E

c.573C>G

1 paper

NM_004456.5

p.D191E

c.573C>A

1 paper

NM_004456.5

p.D192Y

c.574G>T

4 papers

NM_004456.5

p.D192N

c.574G>A

1 paper

NM_004456.5

p.D188H

c.562G>C

1 paper

NM_004456.5

p.D188N

c.562G>A