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.K617_H618Splc

c.1852-21T>C

Surrounding Variants

2 papers

NM_004456.5

p.K617_H618Splc

c.1852-6C>T

1 paper

NM_004456.5

p.K617_H618Splc

c.1852-5T>C

3 papers

NM_004456.5

p.K617_H618Splc

c.1852-2A>G

2 papers

NM_004456.5

p.H618Y

c.1852C>T

1 paper

NM_004456.5

p.H618R

c.1853A>G

1 paper

NM_004456.5

p.H618Q

c.1854T>G

1 paper

NM_004456.5

p.H618Q

c.1854T>A

1 paper

NM_004456.5

p.L619L

c.1855C>T

1 paper

NM_004456.5

p.A622P

c.1864G>C

1 paper

NM_004456.5

p.A622T

c.1864G>A

1 paper

NM_004456.5

p.A622G

c.1865C>G

1 paper

NM_004456.5

p.A622E

c.1865C>A