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

10 papers

NM_003797.5

p.R302G

c.904A>G

Surrounding Variants

11 papers

NM_003797.5

p.R302S

c.906A>C

10 papers

NM_003797.5

p.R302S

c.906A>T

3 papers

NM_003797.5

p.D303H

c.907G>C

3 papers

NM_003797.5

p.R306T

c.917G>C

2 papers

NM_003797.5

p.R306_N307delins

c.917_919delinsCGG

1 paper

NM_003797.5

p.N307Fs

c.919delinsCGGFs

4 papers

NM_003797.5

p.N307D

c.919A>G

1 paper

NM_003797.5

p.I290delFs

c.869delT

1 paper

NM_003797.5

p.I319K

c.956T>A

1 paper

NM_003797.5

p.N281H

c.841A>C

1 paper

NM_003797.5

p.I274V

c.820A>G

1 paper

NM_003797.5

p.L260R

c.779T>G