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

1–12 of 97 variants

7 papers

NM_001004356.3

p.P362Q

c.1085C>A

7 papers

NM_001004356.3

p.H479delFs

c.1435_1436delCA

5 papers

NM_001004356.3

p.P464L

c.1391C>T

3 papers

NM_001004356.3

p.P253R

c.758C>G

3 papers

NM_001004356.3

p.V311M

c.931G>A

3 papers

NM_001004356.3

p.R424L

c.1271G>T

3 papers

NM_001004356.3

p.H485fs

c.1453_1454fs

2 papers

NM_001004356.3

p.P20P

c.60G>A

2 papers

NM_001004356.3

p.R38Q

c.113G>A

2 papers

NM_001004356.3

p.R148C

c.442C>T

2 papers

NM_001004356.3

p.I160delFs

c.479delT

2 papers

NM_001004356.3

p.R193L

c.578G>T