Varaico: Literature-Extracted Genetic Variants

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

1–12 of 138 variants

3 papers

NM_152447.5

p.S360A

c.1078T>G

2 papers

NM_152447.5

p.R23C

c.67C>T

2 papers

NM_152447.5

p.T270N

c.809C>A

2 papers

NM_152447.5

p.R516C

c.1546C>T

2 papers

NM_152447.5

p.R551W

c.1651C>T

2 papers

NM_152447.5

p.W633*

c.1898G>A

2 papers

NM_152447.5

p.W633*

c.1899G>A

1 paper

NM_152447.5

p.I4insFs

c.11dupT

1 paper

NM_152447.5

p.G12C

c.34G>T

1 paper

NM_152447.5

p.R23H

c.68G>A

1 paper

NM_152447.5

p.C24G

c.70T>G

1 paper

NM_152447.5

p.N32I

c.95A>T