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

1–12 of 102 variants

11 papers

NM_003797.5

p.R302S

c.906A>C

10 papers

NM_003797.5

p.R302G

c.904A>G

10 papers

NM_003797.5

p.R302S

c.906A>T

9 papers

NM_003797.5

p.H258Y

c.772C>T

7 papers

NM_003797.5

p.R236T

c.707G>C

6 papers

NM_003797.5

p.N194S

c.581A>G

5 papers

NM_003797.5

p.S259F

c.776C>T

4 papers

NM_003797.5

p.R236G

c.706A>G

4 papers

NM_003797.5

p.N307D

c.919A>G

4 papers

NM_003797.5

p.I363M

c.1089T>G

3 papers

NM_003797.5

p.D237G

c.710A>G

3 papers

NM_003797.5

p.H258L

c.773A>T