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

17 papers

NM_023110.3

p.V273M

c.817G>A

Surrounding Variants

1 paper

NM_023110.3

p.V273L

c.817G>T

1 paper

NM_023110.3

p.V273L

c.817G>C

1 paper

NM_001174064.2

p.S263_N264del2

c.787_791del6

1 paper

NM_023110.3

p.V273G

c.818T>G

2 papers

NM_023110.3

p.N272N

c.816C>T

1 paper

NM_023110.3

p.N272insFs

c.815dupA

1 paper

NM_023110.3

p.E274Q

c.820G>C

1 paper

NM_023110.3

p.E274K

c.820G>A

9 papers

NM_023110.3

p.E274G

c.821A>G

2 papers

NM_023110.3

p.V273_E274del1

c.818_820delCCA

1 paper

NM_023110.3

p.F275ins4

c.823_824ins12

1 paper

NM_023110.3

p.F275V

c.823T>G