Varaico: Literature-Extracted Genetic Variants

Gene:LRFN2
Variant:p.R328C

LRFN2

81 papers

Pfam Domains

LRR_8aa 52–112UCSCLeucine rich repeat
LRR_8aa 124–185UCSCLeucine rich repeat
LRR_8aa 173–218UCSCLeucine rich repeat
I-setaa 289–376UCSCImmunoglobulin I-set domain
fn3aa 420–505UCSCFibronectin type III domain

Gene Aliases

HGNC Name

leucine rich repeat and fibronectin type III domain containing 2

HGNC Previous Symbols

KIAA1246; SALM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020737.3
p.R328C
c.982C>T
Surrounding Variants
1 paper
NM_020737.3
p.A324D
c.971C>A
1 paper
NM_020737.3
p.A337T
c.1009G>A
1 paper
NM_020737.3
p.Q352P
c.1055A>C
2 papers
NM_020737.3
p.C286C
c.858C>T
1 paper
NM_020737.3
p.T369M
c.1106C>T
1 paper
NM_020737.3
p.A370T
c.1108G>A
1 paper
NM_020737.3
p.E281V
c.842A>T
1 paper
NM_020737.3
p.Y275D
c.823T>G
2 papers
NM_020737.3
p.R274H
c.821G>A
1 paper
NM_020737.3
p.G273D
c.818G>A
1 paper
NM_020737.3
p.R388H
c.1163G>A
1 paper
NM_020737.3
p.L250P
c.749T>C
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