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

2 papers

NM_003797.5

p.L240Q

c.719T>A

Surrounding Variants

2 papers

NM_003797.5

p.S241R

c.721A>C

2 papers

NM_003797.5

p.S241R

c.723T>A

2 papers

NM_003797.5

p.S241R

c.723T>G

1 paper

NM_003797.5

p.D237E

c.711T>A

1 paper

NM_003797.5

p.D237E

c.711T>G

3 papers

NM_003797.5

p.D237G

c.710A>G

1 paper

NM_003797.5

p.D237fs

c.709_710fs

1 paper

NM_003797.5

p.D237_A242delFs

c.710_726del17

1 paper

NM_003797.5

p.R236K

c.707G>A

7 papers

NM_003797.5

p.R236T

c.707G>C

4 papers

NM_003797.5

p.R236G

c.706A>G

1 paper

NM_003797.5

p.R216G

c.646C>G