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

2 papers

NM_001004356.3

p.R38Q

c.113G>A

Surrounding Variants

1 paper

NM_001004356.3

p.V40G

c.119T>G

1 paper

NM_001004356.3

p.R42delFs

c.124_125delCG

1 paper

NM_001004356.3

p.R42W

c.124C>T

1 paper

NM_001004356.3

p.R48W

c.142C>T

1 paper

NM_001004356.3

p.P57P

c.171G>A

1 paper

NM_001004356.3

p.D66V

c.197A>T

1 paper

NM_001004356.3

p.R68_I70del3

c.202_209del9

1 paper

NM_001004356.3

p.R76H

c.227G>A

1 paper

NM_001004356.3

p.E92G

c.275A>G

1 paper

NM_001004356.3

p.Y112C

c.335A>G

1 paper

NM_001004356.3

p.V116L

c.346G>C

1 paper

NM_001004356.3

p.V116L

c.346G>T