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.A94T

c.280G>A

Surrounding Variants

1 paper

NM_023110.3

p.A94S

c.280G>T

1 paper

NM_023110.3

p.A94P

c.280G>C

1 paper

NM_023110.3

p.A94E

c.281C>A

1 paper

NM_023110.3

p.P93H

c.278C>A

1 paper

NM_023110.3

p.S96P

c.286T>C

1 paper

NM_023110.3

p.V92L

c.274G>T

1 paper

NM_023110.3

p.V92L

c.274G>C

5 papers

NM_023110.3

p.V92M

c.274G>A

1 paper

NM_023110.3

p.S96fs

c.286_287fs

3 papers

NM_023110.3

p.S96C

c.287C>G

1 paper

NM_023110.3

p.S96insFs

c.286_287ins5

1 paper

NM_023110.3

p.S96S

c.288C>T