Varaico: Literature-Extracted Genetic Variants

Gene:LRFN5
Variant:p.A219S

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.A219S
c.655G>T
Surrounding Variants
1 paper
NM_152447.5
p.R218*
c.652C>T
1 paper
NM_152447.5
p.K209N
c.627G>C
1 paper
NM_152447.5
p.K209N
c.627G>T
1 paper
NM_152447.5
p.Q208H
c.624G>C
1 paper
NM_152447.5
p.Q208H
c.624G>T
1 paper
NM_152447.5
p.S204*
c.611C>A
1 paper
NM_152447.5
p.S204*
c.611C>G
1 paper
NM_152447.5
p.S236R
c.706A>C
1 paper
NM_152447.5
p.S236R
c.708T>A
1 paper
NM_152447.5
p.S236R
c.708T>G
1 paper
NM_152447.5
p.F237L
c.709T>C
1 paper
NM_152447.5
p.F237L
c.711T>A
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