Varaico: Literature-Extracted Genetic Variants

Gene:LRFN5
Variant:p.L432Q

LRFN5

96 papers

RefSeq Summary

This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is ...

Pfam Domains

LRR_8aa 51–111UCSCLeucine rich repeat
LRR_8aa 99–159UCSCLeucine rich repeat
LRR_8aa 147–207UCSCLeucine rich repeat
Ig_3aa 286–361UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

leucine rich repeat and fibronectin type III domain containing 5

HGNC Previous Symbol

C14orf146

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152447.5
p.L432Q
c.1295T>A
Surrounding Variants
1 paper
NM_152447.5
p.K434I
c.1301A>T
1 paper
NM_152447.5
p.A426V
c.1277C>T
1 paper
NM_152447.5
p.I444V
c.1330A>G
1 paper
NM_152447.5
p.Y451*
c.1353C>A
1 paper
NM_152447.5
p.Y451*
c.1353C>G
1 paper
NM_152447.5
p.L459H
c.1376T>A
1 paper
NM_152447.5
p.S403*
c.1208C>A
1 paper
NM_152447.5
p.S403*
c.1208C>G
1 paper
NM_152447.5
p.S398*
c.1193C>A
1 paper
NM_152447.5
p.G393C
c.1177G>T
1 paper
NM_152447.5
p.N382S
c.1145A>G
1 paper
NM_152447.5
p.D371H
c.1111G>C
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