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.N687Fs

c.2061delinsGGCFs

Surrounding Variants

1 paper

NM_004456.5

p.G686D

c.2057G>A

1 paper

NM_004456.5

p.I689V

c.2065A>G

1 paper

NM_004456.5

p.I689ins1

c.2065_2066insGGG

1 paper

NM_004456.5

p.I689ins2

c.2065_2066ins6

1 paper

NM_004456.5

p.I689T

c.2066T>C

1 paper

NM_004456.5

p.G686C

c.2056G>T

1 paper

NM_004456.5

p.G686_N687insA

c.2056_2060ins3

2 papers

NM_004456.5

p.G686R

c.2056G>C

1 paper

NM_004456.5

p.G686S

c.2056G>A

1 paper

NM_004456.5

p.R684_I689delFs

c.2051_2066del16

1 paper

NM_004456.5

p.K685fs

c.2053_2054fs

1 paper

NM_004456.5

p.K685delFs

c.2054delT