Varaico: Literature-Extracted Genetic Variants

Gene:LRFN5
Variant:p.E597Q

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.E597Q
c.1789G>C
Surrounding Variants
1 paper
NM_152447.5
p.G595A
c.1784G>C
1 paper
NM_152447.5
p.Q601K
c.1801C>A
1 paper
NM_152447.5
p.A593S
c.1777G>T
1 paper
NM_152447.5
p.T584R
c.1751C>G
1 paper
NM_152447.5
p.S613P
c.1837T>C
1 paper
NM_152447.5
p.A576T
c.1726G>A
1 paper
NM_152447.5
p.G575R
c.1723G>A
1 paper
NM_152447.5
p.G575R
c.1723G>C
1 paper
NM_152447.5
p.Q572*
c.1714C>T
1 paper
NM_152447.5
p.N568I
c.1703A>T
1 paper
NM_152447.5
p.T625T
c.1875T>C
1 paper
NM_152447.5
p.V566F
c.1696G>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."