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.K156_H158delFs

c.467_473del7

Surrounding Variants

1 paper

NM_004456.5

p.H158Q

c.474C>G

1 paper

NM_004456.5

p.H158Q

c.474C>A

1 paper

NM_004456.5

p.G159W

c.475G>T

34 papers

NM_004456.5

p.G159R

c.475G>C

34 papers

NM_004456.5

p.G159R

c.475G>A

1 paper

NM_004456.5

p.H158_G159delins

c.474_475delinsTA

1 paper

NM_004456.5

p.G159E

c.476G>A

1 paper

NM_004456.5

p.H158Y

c.472C>T

2 papers

NM_004456.5

p.H158N

c.472C>A

1 paper

NM_004456.5

p.V157A

c.470T>C

1 paper

NM_004456.5

p.V157I

c.469G>A

1 paper

NM_004456.5

p.D160G

c.479A>G