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

56 papers

NM_001203247.2

p.Y641H

c.1921T>C

NM_004456.5

p.Y646H

c.1936T>C

Surrounding Variants

1 paper

NM_004456.5

p.Y646D

c.1936T>G

102 papers

NM_004456.5

p.Y646N

c.1936T>A

NM_001203249.2

p.Y590N

c.1768T>A

NM_001203247.2

p.Y641N

c.1921T>A

91 papers

NM_001203249.2

p.Y590F

c.1769A>T

NM_001203247.2

p.Y641F

c.1922A>T

NM_004456.5

p.Y646F

c.1937A>T

39 papers

NM_001203247.2

p.Y641C

c.1922A>G

NM_004456.5

p.Y646C

c.1937A>G

46 papers

NM_001203247.2

p.Y641S

c.1922A>C

NM_004456.5

p.Y646S

c.1937A>C

1 paper

NM_004456.5

p.E645_Y646delins

c.1935_1937delinsGTT

12 papers

NM_004456.5

p.Y646*

c.1938C>G

NM_001203247.2

p.Y641*

c.1923C>G

12 papers

NM_004456.5

p.Y646*

c.1938C>A

NM_001203247.2

p.Y641*

c.1923C>A

1 paper

NM_004456.5

p.E645V

c.1934A>T

1 paper

NM_004456.5

p.C647R

c.1939T>C

1 paper

NM_004456.5

p.C647S

c.1939T>A

1 paper

NM_004456.5

p.E645K

c.1933G>A