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.W373C

c.1119G>C

Surrounding Variants

1 paper

NM_003797.5

p.W364R

c.1090T>A

1 paper

NM_003797.5

p.W364R

c.1090T>C

4 papers

NM_003797.5

p.I363M

c.1089T>G

1 paper

NM_003797.5

p.Y358C

c.1073A>G

1 paper

NM_003797.5

p.I343M

c.1029T>G

1 paper

NM_003797.5

p.P333S

c.997C>T

2 papers

NM_003797.5

p.W331C

c.993G>C

1 paper

NM_003797.5

p.A378S

c.1132G>T

1 paper

NM_003797.5

p.A378delFs

c.1133delC

1 paper

NM_003797.5

p.A378V

c.1133C>T

1 paper

NM_003797.5

p.K400Splc

c.1199+10T>C

1 paper

NM_003797.5

p.R414*

c.1240C>T