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

8 papers

NM_004456.5

p.N693K

c.2079T>G

Surrounding Variants

1 paper

NM_004456.5

p.N693fs

c.2077_2078fs

9 papers

NM_004456.5

p.N693K

c.2079T>A

10 papers

NM_004456.5

p.H694Y

c.2080C>T

NM_001203247.2

p.H689Y

c.2065C>T

1 paper

NM_004456.5

p.H694D

c.2080C>G

2 papers

NM_004456.5

p.N693I

c.2078A>T

3 papers

NM_004456.5

p.N693T

c.2078A>C

NM_001203247.2

p.N688T

c.2063A>C

3 papers

NM_004456.5

p.N693Y

c.2077A>T

1 paper

NM_004456.5

p.H694L

c.2081A>T

5 papers

NM_004456.5

p.H694R

c.2081A>G

1 paper

NM_004456.5

p.N693H

c.2077A>C

1 paper

NM_004456.5

p.H694Q

c.2082T>G

1 paper

NM_004456.5

p.H694Q

c.2082T>A