Varaico: Literature-Extracted Genetic Variants

Gene:LRFN5
Variant:p.M549I

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.M549I
c.1647G>C
Surrounding Variants
2 papers
NM_152447.5
p.R551W
c.1651C>T
1 paper
NM_152447.5
p.L548M
c.1642C>A
1 paper
NM_152447.5
p.I547N
c.1640T>A
1 paper
NM_152447.5
p.Y552F
c.1655A>T
1 paper
NM_152447.5
p.F544V
c.1630T>G
1 paper
NM_152447.5
p.V541L
c.1621G>C
1 paper
NM_152447.5
p.V541L
c.1621G>T
1 paper
NM_152447.5
p.K562N
c.1686G>C
1 paper
NM_152447.5
p.K562N
c.1686G>T
1 paper
NM_152447.5
p.K565K
c.1695G>A
1 paper
NM_152447.5
p.V566F
c.1696G>T
1 paper
NM_152447.5
p.I531T
c.1592T>C
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