Varaico: Literature-Extracted Genetic Variants

Gene:ELFN2
Variant:p.G478R

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.G478R
c.1432G>A
Surrounding Variants
1 paper
NM_052906.5
p.G478R
c.1432G>C
1 paper
NM_052906.5
p.I473L
c.1417A>C
1 paper
NM_052906.5
p.Q457R
c.1370A>G
1 paper
NM_052906.5
p.A509A
c.1527C>T
1 paper
NM_052906.5
p.R442C
c.1324C>T
2 papers
NM_052906.5
p.R516Q
c.1547G>A
1 paper
NM_052906.5
p.E518K
c.1552G>A
1 paper
NM_052906.5
p.K436N
c.1308G>T
1 paper
NM_052906.5
p.K436N
c.1308G>C
1 paper
NM_052906.5
p.N433S
c.1298A>G
1 paper
NM_052906.5
p.S530*
c.1589C>A
1 paper
NM_052906.5
p.A414A
c.1242C>T
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