Varaico: Literature-Extracted Genetic Variants

Gene:LRFN2
Variant:p.R53L

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
1 paper
NM_020737.3
p.R53L
c.158G>T
Surrounding Variants
1 paper
NM_020737.3
p.P47fs
c.139_140fs
1 paper
NM_020737.3
p.M75L
c.223A>T
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.F11L
c.31T>C
1 paper
NM_020737.3
p.R111Q
c.332G>A
1 paper
NM_020737.3
p.E117K
c.349G>A
1 paper
NM_020737.3
p.P165R
c.494C>G
1 paper
NM_020737.3
p.R170*
c.508C>T
1 paper
NM_020737.3
p.V173G
c.518T>G
3 papers
NM_020737.3
p.N174I
c.521A>T
1 paper
NM_020737.3
p.N183S
c.548A>G
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