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

2 papers

NM_004456.5

p.I150T

c.449T>C

Surrounding Variants

5 papers

NM_004456.5

p.L149R

c.446T>G

3 papers

NM_004456.5

p.L149P

c.446T>C

4 papers

NM_004456.5

p.L149Q

c.446T>A

1 paper

NM_004456.5

p.E148del1

c.442_443delTTC

2 papers

NM_004456.5

p.N152fs

c.454_455fs

1 paper

NM_004456.5

p.E147_E148delFs

c.441_442delCT

1 paper

NM_004456.5

p.N152I

c.455A>T

1 paper

NM_004456.5

p.E148V

c.443A>T

3 papers

NM_004456.5

p.E148G

c.443A>G

1 paper

NM_004456.5

p.Q141_E148delFs

c.421_442del22

3 papers

NM_004456.5

p.N152fs

c.454_455fs

6 papers

NM_004456.5

p.N152delFs

c.455delT