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

4 papers

NM_004456.5

p.Y133C

c.398A>G

Surrounding Variants

3 papers

NM_004456.5

p.Y133H

c.397T>C

1 paper

NM_004456.5

p.Y133N

c.397T>A

1 paper

NM_004456.5

p.N130_Y133delFs

c.388_397del10

1 paper

NM_004456.5

p.P132P

c.396T>C

5 papers

NM_004456.5

p.M134T

c.401T>C

4 papers

NM_004456.5

p.M134K

c.401T>A

6 papers

NM_004456.5

p.P132L

c.395C>T

1 paper

NM_004456.5

p.P132R

c.395C>G

20 papers

NM_004456.5

p.P132S

c.394C>T

3 papers

NM_004456.5

p.P132A

c.394C>G

3 papers

NM_004456.5

p.P132T

c.394C>A

6 papers

NM_004456.5

p.G135R

c.403G>C