Varaico: Literature-Extracted Genetic Variants

Gene:ELFN2
Variant:p.D292E

ELFN2

68 papers

Pfam Domains

LRR_8aa 79–139UCSCLeucine rich repeat
LRR_8aa 132–187UCSCLeucine rich repeat
Fn3_ELFNaa 296–380UCSCELFN1/ELFN2, fibronectin type-III domain

Gene Aliases

HGNC Name

extracellular leucine rich repeat and fibronectin type III domain containing 2

HGNC Previous Symbols

LRRC62; PPP1R29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052906.5
p.D292E
c.876T>A
Surrounding Variants
1 paper
NM_052906.5
p.D292E
c.876T>G
1 paper
NM_052906.5
p.P285L
c.854C>T
1 paper
NM_052906.5
p.T305M
c.914C>T
1 paper
NM_052906.5
p.I315I
c.945C>T
1 paper
NM_052906.5
p.H317Y
c.949C>T
1 paper
NM_052906.5
p.D264D
c.792C>T
1 paper
NM_052906.5
p.V326M
c.976G>A
1 paper
NM_052906.5
p.T259M
c.776C>T
2 papers
NM_052906.5
p.V255L
c.763G>T
2 papers
NM_052906.5
p.V255L
c.763G>C
1 paper
NM_052906.5
p.A252T
c.754G>A
1 paper
NM_052906.5
p.T239T
c.717C>T
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