Varaico: Literature-Extracted Genetic Variants

Gene:LRFN5
Variant:p.R110S

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.R110S
c.330A>T
Surrounding Variants
1 paper
NM_152447.5
p.R110S
c.330A>C
1 paper
NM_152447.5
p.T112N
c.335C>A
1 paper
NM_152447.5
p.N100I
c.299A>T
1 paper
NM_152447.5
p.G121S
c.361G>A
1 paper
NM_152447.5
p.N100Y
c.298A>T
1 paper
NM_152447.5
p.R99Q
c.296G>A
1 paper
NM_152447.5
p.R99*
c.295C>T
1 paper
NM_152447.5
p.A96T
c.286G>A
1 paper
NM_152447.5
p.H126Y
c.376C>T
1 paper
NM_152447.5
p.L128F
c.384G>C
1 paper
NM_152447.5
p.L128F
c.384G>T
1 paper
NM_152447.5
p.T86T
c.258A>G
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