Varaico: Literature-Extracted Genetic Variants

EED

122 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

WD40aa 180–219UCSCWD domain, G-beta repeat

WD40aa 225–264UCSCWD domain, G-beta repeat

WD40aa 398–438UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

embryonic ectoderm development

HGNC Alias Symbols

WAIT-1; HEED

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003797.5

p.F147Y

c.440T>A

Surrounding Variants

1 paper

NM_003797.5

p.N146_T153delFs

c.436_458del23

1 paper

NM_003797.5

p.D144insFs

c.430dupG

1 paper

NM_003797.5

p.T158M

c.473C>T

1 paper

NM_003797.5

p.P177S

c.529C>T

1 paper

NM_003797.5

p.H189N

c.565C>A

1 paper

NM_003797.5

p.A192P

c.574G>C

1 paper

NM_003797.5

p.I193N

c.578T>A

1 paper

NM_003797.5

p.R133W

c.397C>T

6 papers

NM_003797.5

p.N194S

c.581A>G

2 papers

NM_003797.5

p.L196Q

c.587T>A

2 papers

NM_003797.5

p.L196P

c.587T>C

1 paper

NM_003797.5

p.F198L

c.592T>C