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.T103I

c.308C>T

Surrounding Variants

1 paper

NM_023110.3

p.T103insFs

c.308_309insA

1 paper

NM_023110.3

p.T103N

c.308C>A

2 papers

NM_023110.3

p.T103T

c.309C>G

1 paper

NM_023110.3

p.T103delins

c.308_309delinsTT

1 paper

NM_023110.3

p.T103S

c.307A>T

1 paper

NM_023110.3

p.V102_T103insFs

c.306_307insAG

3 papers

NM_023110.3

p.V102fs

c.304_305fs

1 paper

NM_023110.3

p.T103delFs

c.309delG

1 paper

NM_023110.3

p.V102A

c.305T>C

1 paper

NM_023110.3

p.V102E

c.305T>A

1 paper

NM_023110.3

p.V102delFs

c.304delC

1 paper

NM_023110.3

p.A100_C101del2

c.298_302del6