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.V175V

c.525G>A

Surrounding Variants

1 paper

NM_004456.5

p.N176fs

c.526_527fs

1 paper

NM_004456.5

p.L174S

c.521T>C

1 paper

NM_004456.5

p.L174*

c.521T>A

2 papers

NM_004456.5

p.A177T

c.529G>A

1 paper

NM_004456.5

p.E173D

c.519G>T

1 paper

NM_004456.5

p.E173D

c.519G>C

1 paper

NM_004456.5

p.L178F

c.532C>T

2 papers

NM_004456.5

p.E173Q

c.517G>C

1 paper

NM_004456.5

p.L178fs

c.532_533fs

1 paper

NM_004456.5

p.G179D

c.536G>A

1 paper

NM_004456.5

p.V172M

c.514G>A

1 paper

NM_004456.5

p.G179fs

c.535_536fs