Varaico: Literature-Extracted Genetic Variants

Gene:LRFN2

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
1–12 of 84 variants
3 papers
NM_020737.3
p.N174I
c.521A>T
2 papers
NM_020737.3
p.A189T
c.565G>A
2 papers
NM_020737.3
p.C246*
c.738C>A
2 papers
NM_020737.3
p.R274H
c.821G>A
2 papers
NM_020737.3
p.C286C
c.858C>T
2 papers
NM_020737.3
p.R328C
c.982C>T
2 papers
NM_020737.3
p.R746W
c.2236C>T
1 paper
NM_020737.3
p.F11L
c.31T>C
1 paper
NM_020737.3
p.F11L
c.33T>G
1 paper
NM_020737.3
p.F11L
c.33T>A
1 paper
NM_020737.3
p.P47fs
c.139_140fs
1 paper
NM_020737.3
p.R53L
c.158G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."