Varaico: Literature-Extracted Genetic Variants

FGFR1

2,164 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

igaa 41–114UCSCImmunoglobulin domain

I-setaa 158–245UCSCImmunoglobulin I-set domain

I-setaa 257–356UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 474–750UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 1

HGNC Previous Symbols

FLT2; KAL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023110.3

p.T313N

c.938C>A

Surrounding Variants

5 papers

NM_023110.3

p.A314S

c.940G>T

2 papers

NM_023110.3

p.A314D

c.941C>A

1 paper

NM_023110.3

p.G315*

c.943G>T

1 paper

NM_001354368.2

p.G224R

c.670G>C

3 papers

NM_023110.3

p.G315E

c.944G>A

1 paper

NM_023110.3

p.G315delFs

c.943delC

1 paper

NM_023110.3

p.N317S

c.950A>G

1 paper

NM_023110.3

p.N317_T318insFs

c.951_952ins4

1 paper

NM_023110.3

p.T318A

c.952A>G

1 paper

NM_023110.3

p.T319fs

c.955_956fs

1 paper

NM_023110.3

p.T319A

c.955A>G

1 paper

NM_023110.3

p.T319fs

c.955_956fs