Varaico: Literature-Extracted Genetic Variants

Gene:ELFN2
Variant:p.S530*

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.S530*
c.1589C>A
Surrounding Variants
1 paper
NM_052906.5
p.E518K
c.1552G>A
2 papers
NM_052906.5
p.R516Q
c.1547G>A
1 paper
NM_052906.5
p.Q546R
c.1637A>G
1 paper
NM_052906.5
p.A509A
c.1527C>T
1 paper
NM_052906.5
p.A560T
c.1678G>A
1 paper
NM_052906.5
p.S568_S569ins1
c.1704_1705insTGC
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.S569R
c.1707T>G
1 paper
NM_052906.5
p.S569R
c.1707T>A
1 paper
NM_052906.5
p.P572fs
c.1714_1715fs
1 paper
NM_052906.5
p.P572_L574delFs
c.1714_1720del7
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