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.S602A

c.1804T>G

Surrounding Variants

1 paper

NM_023110.3

p.S602P

c.1804T>C

1 paper

NM_023110.3

p.S602T

c.1804T>A

1 paper

NM_023110.3

p.V601V

c.1803G>T

1 paper

NM_023110.3

p.V601V

c.1803G>C

1 paper

NM_023110.3

p.V601V

c.1803G>A

2 papers

NM_023110.3

p.S602F

c.1805C>T

1 paper

NM_023110.3

p.S602C

c.1805C>G

2 papers

NM_023110.3

p.S602Y

c.1805C>A

1 paper

NM_023110.3

p.V601G

c.1802T>G

1 paper

NM_023110.3

p.V601A

c.1802T>C

1 paper

NM_023110.3

p.V601E

c.1802T>A

3 papers

NM_023110.3

p.V601delFs

c.1801delC