Varaico: Literature-Extracted Genetic Variants

Gene:FLRT1
Variant:p.D300V

FLRT1

54 papers

RefSeq Summary

This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures re...

Pfam Domains

LRRNTaa 53–80UCSCLeucine rich repeat N-terminal domain
LRR_8aa 127–189UCSCLeucine rich repeat
LRR_8aa 270–329UCSCLeucine rich repeat

Gene Aliases

HGNC Name

fibronectin leucine rich transmembrane protein 1

HGNC Alias Symbols

MGC21624; SPG68

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013280.5
p.D300V
c.899A>T
Surrounding Variants
1 paper
NM_013280.5
p.R298W
c.892C>T
1 paper
NM_013280.5
p.R294C
c.880C>T
2 papers
NM_013280.5
p.R311C
c.931C>T
1 paper
NM_013280.5
p.R311R
c.933C>T
1 paper
NM_013280.5
p.Q273H
c.819G>C
1 paper
NM_013280.5
p.Q273H
c.819G>T
1 paper
NM_013280.5
p.S254L
c.761C>T
1 paper
NM_013280.5
p.N249K
c.747C>A
1 paper
NM_013280.5
p.N249K
c.747C>G
1 paper
NM_013280.5
p.V352M
c.1054G>A
2 papers
NM_013280.5
p.E374D
c.1122G>C
2 papers
NM_013280.5
p.E374D
c.1122G>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."