Varaico: Literature-Extracted Genetic Variants

Gene:EDF1
Variant:p.R63W

EDF1

21 papers

RefSeq Summary

This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a tra...

Pfam Domains

MBF1aa 4–73UCSCMultiprotein bridging factor 1
HTH_3aa 81–134UCSCHelix-turn-helix

Gene Aliases

HGNC Name

endothelial differentiation related factor 1

HGNC Alias Symbols

EDF-1; CFAP280

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003792.4
p.R63W
c.187C>T
Surrounding Variants
1 paper
NM_003792.4
p.T55S
c.164C>G
1 paper
NM_003792.4
p.T55S
c.163A>T
1 paper
NM_003792.4
p.S53S
c.159T>C
1 paper
NM_003792.4
p.A46S
c.136G>T
1 paper
NM_003792.4
p.W44*
c.132G>A
1 paper
NM_003792.4
p.W44*
c.131G>A
1 paper
NM_003792.4
p.N100N
c.300T>C
1 paper
NM_003792.4
p.S111R
c.331A>C
1 paper
NM_003792.4
p.S111R
c.333C>G
1 paper
NM_003792.4
p.S111R
c.333C>A
1 paper
NM_003792.4
p.E39D
c.117G>T
1 paper
NM_003792.4
p.E36D
c.108A>T
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