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.L260R

c.779T>G

Surrounding Variants

5 papers

NM_003797.5

p.S259F

c.776C>T

3 papers

NM_003797.5

p.H258L

c.773A>T

1 paper

NM_003797.5

p.H258N

c.772C>A

9 papers

NM_003797.5

p.H258Y

c.772C>T

1 paper

NM_003797.5

p.D257E

c.771T>A

1 paper

NM_003797.5

p.D257E

c.771T>G

1 paper

NM_003797.5

p.M256K

c.767T>A

2 papers

NM_003797.5

p.G255D

c.764G>A

1 paper

NM_003797.5

p.M252T

c.755T>C

1 paper

NM_003797.5

p.I251fs

c.751_752fs

1 paper

NM_003797.5

p.I251fs

c.751_752fs

1 paper

NM_003797.5

p.E249insFs

c.746dupA