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

2 papers

NM_023110.3

p.A263del1

c.787_789delGGC

Surrounding Variants

5 papers

NM_023110.3

p.N264Y

c.790A>T

3 papers

NM_023110.3

p.A263V

c.788C>T

2 papers

NM_023110.3

p.A263G

c.788C>G

1 paper

NM_023110.3

p.A263S

c.787G>T

3 papers

NM_023110.3

p.A263T

c.787G>A

1 paper

NM_023110.3

p.P262delFs

c.785delG

1 paper

NM_023110.3

p.A263_N264del2

c.787_791del6

2 papers

NM_023110.3

p.P262S

c.784C>T

1 paper

NM_023110.3

p.T266fs

c.796_797fs

1 paper

NM_023110.3

p.L261F

c.783G>T

1 paper

NM_023110.3

p.L261F

c.783G>C

1 paper

NM_023110.3

p.T266Fs

c.797delinsTTFs