Varaico: Literature-Extracted Genetic Variants

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.S244insFs

c.730_731insT

Surrounding Variants

1 paper

NM_001004356.3

p.R243H

c.728G>A

1 paper

NM_001004356.3

p.S244insFs

c.730_731insG

2 papers

NM_001004356.3

p.R241W

c.721C>T

1 paper

NM_001004356.3

p.L248L

c.744C>T

3 papers

NM_001004356.3

p.P253R

c.758C>G

1 paper

NM_001004356.3

p.P253L

c.758C>T

1 paper

NM_001004356.3

p.T257T

c.771G>A

1 paper

NM_001004356.3

p.T264A

c.790A>G

1 paper

NM_001004356.3

p.S265insFs

c.794dupC

1 paper

NM_001004356.3

p.I296V

c.886A>G

1 paper

NM_001004356.3

p.I296I

c.888C>T

1 paper

NM_001004356.3

p.D297D

c.891T>C