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

7 papers

NM_001004356.3

p.H479delFs

c.1435_1436delCA

Surrounding Variants

1 paper

NM_001004356.3

p.I478_H479insFs

c.1434_1435insCA

1 paper

NM_001004356.3

p.I478_H479insFs

c.1434_1435ins4

1 paper

NM_001004356.3

p.H479Y

c.1435C>T

2 papers

NM_001004356.3

p.H479del1

c.1435_1436delCAC

2 papers

NM_001004356.3

p.I478fs

c.1432_1433fs

1 paper

NM_001004356.3

p.I478delFs

c.1433_1434delTC

1 paper

NM_001004356.3

p.I478del1

c.1432_1433delATC

1 paper

NM_001004356.3

p.D477H

c.1429G>C

1 paper

NM_001004356.3

p.H483D

c.1447C>G

1 paper

NM_001004356.3

p.H485_S486delFs

c.1454_1457del4

1 paper

NM_001004356.3

p.H485fs

c.1453_1454fs

3 papers

NM_001004356.3

p.H485fs

c.1453_1454fs