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.D681E

c.2043T>G

Surrounding Variants

1 paper

NM_004456.5

p.D681E

c.2043T>A

12 papers

NM_004456.5

p.A682T

c.2044G>A

NM_001203247.2

p.A677T

c.2029G>A

1 paper

NM_004456.5

p.D681Y

c.2041G>T

2 papers

NM_004456.5

p.D681N

c.2041G>A

6 papers

NM_004456.5

p.A682V

c.2045C>T

30 papers

NM_001203247.2

p.A677G

c.2030C>G

NM_004456.5

p.A682G

c.2045C>G

1 paper

NM_004456.5

p.A682A

c.2046A>C

1 paper

NM_004456.5

p.T683A

c.2047A>G

1 paper

NM_004456.5

p.V680L

c.2038G>T

1 paper

NM_004456.5

p.V680L

c.2038G>C

1 paper

NM_004456.5

p.V680M

c.2038G>A

3 papers

NM_004456.5

p.T683I

c.2048C>T