Varaico: Literature-Extracted Genetic Variants

Gene:FGFRL1
Variant:p.T220delFs

FGFRL1

99 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family...

Pfam Domains

I-setaa 29–116UCSCImmunoglobulin I-set domain
I-setaa 147–238UCSCImmunoglobulin I-set domain
Ig_3aa 245–342UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

fibroblast growth factor receptor like 1

HGNC Alias Symbol

FGFR5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001004356.3
p.T220delFs
c.658delA
Surrounding Variants
1 paper
NM_001004356.3
p.G217S
c.649G>A
1 paper
NM_001004356.3
p.V223M
c.667G>A
1 paper
NM_001004356.3
p.R226L
c.677G>T
1 paper
NM_001004356.3
p.Y234H
c.700T>C
1 paper
NM_001004356.3
p.R200insFs
c.600dupG
1 paper
NM_001004356.3
p.A197T
c.589G>A
2 papers
NM_001004356.3
p.R193L
c.578G>T
1 paper
NM_001004356.3
p.R193C
c.577C>T
1 paper
NM_001004356.3
p.W184*
c.552G>A
1 paper
NM_001004356.3
p.W184*
c.551G>A
1 paper
NM_001004356.3
p.D181N
c.541G>A
1 paper
NM_001004356.3
p.P163A
c.487C>G
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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."