Varaico: Literature-Extracted Genetic Variants

Gene:ELFN2
Variant:p.S148F

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
2 papers
NM_052906.5
p.S148F
c.443C>T
Surrounding Variants
1 paper
NM_052906.5
p.R124*
c.370C>T
1 paper
NM_052906.5
p.G121V
c.362G>T
1 paper
NM_052906.5
p.E190K
c.568G>A
1 paper
NM_052906.5
p.S103T
c.307T>A
1 paper
NM_052906.5
p.A98D
c.293C>A
1 paper
NM_052906.5
p.D211N
c.631G>A
1 paper
NM_052906.5
p.D83N
c.247G>A
1 paper
NM_052906.5
p.S234N
c.701G>A
1 paper
NM_052906.5
p.R61Q
c.182G>A
1 paper
NM_052906.5
p.A237T
c.709G>A
1 paper
NM_052906.5
p.T239T
c.717C>T
1 paper
NM_052906.5
p.I53V
c.157A>G
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