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

1–12 of 1730 variants

97 papers

NM_004456.5

p.Y646N

c.1936T>A

84 papers

NM_004456.5

p.Y646F

c.1937A>T

72 papers

NM_004456.5

p.D185H

c.553G>C

58 papers

NM_004456.5

p.R690H

c.2069G>A

53 papers

NM_004456.5

p.Y646H

c.1936T>C

43 papers

NM_004456.5

p.Y646S

c.1937A>C

41 papers

NM_004456.5

p.R684C

c.2050C>T

35 papers

NM_004456.5

p.Y646C

c.1937A>G

34 papers

NM_004456.5

p.G159R

c.475G>C

34 papers

NM_004456.5

p.G159R

c.475G>A

32 papers

NM_004456.5

p.V626M

c.1876G>A

30 papers

NM_004456.5

p.A692V

c.2075C>T