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.V696E

c.2087T>A

Surrounding Variants

1 paper

NM_004456.5

p.S695delFs

c.2085delC

1 paper

NM_004456.5

p.V696fs

c.2086_2087fs

1 paper

NM_004456.5

p.N697Y

c.2089A>T

18 papers

NM_004456.5

p.S695L

c.2084C>T

1 paper

NM_004456.5

p.S695W

c.2084C>G

1 paper

NM_004456.5

p.S695P

c.2083T>C

1 paper

NM_004456.5

p.N697K

c.2091T>A

1 paper

NM_004456.5

p.S695T

c.2083T>A

1 paper

NM_004456.5

p.H694Q

c.2082T>G

1 paper

NM_004456.5

p.H694Q

c.2082T>A

1 paper

NM_004456.5

p.P698S

c.2092C>T

1 paper

NM_004456.5

p.P698L

c.2093C>T