Varaico: Literature-Extracted Genetic Variants

Gene:EDC4
Variant:p.E483Q

EDC4

86 papers

Pfam Domains

Ge1_WD40aa 114–441UCSCWD40 region of Ge1, enhancer of mRNA-decapping protein
EDC4_Caa 1268–1388UCSCEnhancer of mRNA-decapping protein 4, C-terminal

Gene Aliases

HGNC Name

enhancer of mRNA decapping 4

HGNC Alias Symbols

RCD-8; Ge-1; HEDLS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014329.5
p.E483Q
c.1447G>C
Surrounding Variants
1 paper
NM_014329.5
p.N484D
c.1450A>G
1 paper
NM_014329.5
p.E482Q
c.1444G>C
2 papers
NM_014329.5
p.V477M
c.1429G>A
1 paper
NM_014329.5
p.R473Q
c.1418G>A
1 paper
NM_014329.5
p.R471Q
c.1412G>A
1 paper
NM_014329.5
p.R471ins2
c.1412_1413ins6
1 paper
NM_014329.5
p.I464V
c.1390A>G
1 paper
NM_014329.5
p.L460R
c.1379T>G
1 paper
NM_014329.5
p.G496D
c.1487G>A
1 paper
NM_014329.5
p.Y432*
c.1296T>A
1 paper
NM_014329.5
p.Y432*
c.1296T>G
1 paper
NM_014329.5
p.V430fs
c.1288_1289fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."