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.E641D

c.1923A>C

Surrounding Variants

1 paper

NM_004456.5

p.E641D

c.1923A>T

4 papers

NM_004456.5

p.F642L

c.1924T>C

2 papers

NM_004456.5

p.K634_E641delFs

c.1900_1922del23

5 papers

NM_004456.5

p.E641V

c.1922A>T

3 papers

NM_004456.5

p.E641A

c.1922A>C

1 paper

NM_004456.5

p.E641*

c.1921G>T

2 papers

NM_004456.5

p.N640fs

c.1918_1919fs

3 papers

NM_004456.5

p.N640K

c.1920T>G

4 papers

NM_004456.5

p.N640K

c.1920T>A

4 papers

NM_004456.5

p.F642L

c.1926C>G

4 papers

NM_004456.5

p.F642L

c.1926C>A

3 papers

NM_004456.5

p.N640S

c.1919A>G