Varaico: Literature-Extracted Genetic Variants

Gene:ELFN2
Variant:p.S569R

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.S569R
c.1707T>A
Surrounding Variants
1 paper
NM_052906.5
p.S569R
c.1707T>G
1 paper
NM_052906.5
p.S569C
c.1705A>T
1 paper
NM_052906.5
p.S569R
c.1705A>C
1 paper
NM_052906.5
p.S568_S569ins1
c.1704_1705insTGC
1 paper
NM_052906.5
p.P572fs
c.1714_1715fs
1 paper
NM_052906.5
p.P572_L574delFs
c.1714_1720del7
1 paper
NM_052906.5
p.F576L
c.1726T>C
1 paper
NM_052906.5
p.F576L
c.1728C>G
1 paper
NM_052906.5
p.F576L
c.1728C>A
1 paper
NM_052906.5
p.C578G
c.1732T>G
1 paper
NM_052906.5
p.A560T
c.1678G>A
1 paper
NM_052906.5
p.Q579_S580insFs
c.1737_1738ins7
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