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

3 papers

NM_001004356.3

p.H485fs

c.1453_1454fs

Surrounding Variants

1 paper

NM_001004356.3

p.H485fs

c.1453_1454fs

1 paper

NM_001004356.3

p.H485L

c.1454A>T

1 paper

NM_001004356.3

p.H485_S486delFs

c.1454_1457del4

2 papers

NM_001004356.3

p.S486T

c.1456T>A

1 paper

NM_001004356.3

p.S486C

c.1457C>G

1 paper

NM_001004356.3

p.H487_T488delFs

c.1459_1462del4

1 paper

NM_001004356.3

p.H483D

c.1447C>G

1 paper

NM_001004356.3

p.S490fs

c.1468_1469fs

1 paper

NM_001004356.3

p.H479Y

c.1435C>T

1 paper

NM_001004356.3

p.I478_H479insFs

c.1434_1435insCA

1 paper

NM_001004356.3

p.I478_H479insFs

c.1434_1435ins4

7 papers

NM_001004356.3

p.H479delFs

c.1435_1436delCA