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.A625V

c.1874C>T

Surrounding Variants

1 paper

NM_023110.3

p.A625G

c.1874C>G

1 paper

NM_023110.3

p.A625E

c.1874C>A

1 paper

NM_023110.3

p.A625S

c.1873G>T

1 paper

NM_023110.3

p.A625P

c.1873G>C

1 paper

NM_023110.3

p.A625T

c.1873G>A

1 paper

NM_023110.3

p.A625A

c.1875A>T

1 paper

NM_023110.3

p.A625A

c.1875A>G

1 paper

NM_023110.3

p.A625A

c.1875A>C

1 paper

NM_023110.3

p.A626S

c.1876G>T

1 paper

NM_023110.3

p.A626P

c.1876G>C

1 paper

NM_023110.3

p.A626T

c.1876G>A

3 papers

NM_023110.3

p.L624R

c.1871T>G