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.D208V

c.623A>T

Surrounding Variants

1 paper

NM_004456.5

p.D208G

c.623A>G

1 paper

NM_004456.5

p.D208E

c.624T>G

1 paper

NM_004456.5

p.D208E

c.624T>A

1 paper

NM_004456.5

p.D208Y

c.622G>T

1 paper

NM_004456.5

p.D208N

c.622G>A

1 paper

NM_004456.5

p.D209N

c.625G>A

1 paper

NM_004456.5

p.D209Splc

c.625+1G>T

4 papers

NM_004456.5

p.D209Splc

c.625+1G>A

1 paper

NM_004456.5

p.R207Q

c.620G>A

1 paper

NM_004456.5

p.D209Splc

c.625+2T>G

12 papers

NM_004456.5

p.R207*

c.619C>T

1 paper

NM_004456.5

p.H206Y

c.616C>T