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.S530*

c.1589C>G

Surrounding Variants

1 paper

NM_023110.3

p.S530L

c.1589C>T

2 papers

NM_023110.3

p.S530*

c.1589C>A

1 paper

NM_023110.3

p.S530A

c.1588T>G

1 paper

NM_023110.3

p.S530P

c.1588T>C

1 paper

NM_023110.3

p.S530T

c.1588T>A

1 paper

NM_023110.3

p.S530S

c.1590A>T

1 paper

NM_023110.3

p.S530S

c.1590A>G

1 paper

NM_023110.3

p.S530S

c.1590A>C

1 paper

NM_023106.3

p.S439fs

c.1315_1316fs

1 paper

NM_023110.3

p.E531*

c.1591G>T

1 paper

NM_023110.3

p.E531Q

c.1591G>C

5 papers

NM_023110.3

p.E531K

c.1591G>A