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.D635insFs

c.1904dupA

Surrounding Variants

1 paper

NM_004456.5

p.D635insFs

c.1904_1905insAA

1 paper

NM_004456.5

p.D635E

c.1905T>G

1 paper

NM_004456.5

p.D635E

c.1905T>A

1 paper

NM_004456.5

p.D635delFs

c.1904delT

1 paper

NM_004456.5

p.P636A

c.1906C>G

1 paper

NM_004456.5

p.F632_D635del4

c.1894_1904del12

1 paper

NM_004456.5

p.D635H

c.1903G>C

1 paper

NM_004456.5

p.D635N

c.1903G>A

3 papers

NM_004456.5

p.P636L

c.1907C>T

1 paper

NM_004456.5

p.P636P

c.1908T>C

1 paper

NM_004456.5

p.V637_Q638insTT

c.1909_1913ins6

1 paper

NM_004456.5

p.K634I

c.1901A>T