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.V561G

c.1682T>G

Surrounding Variants

1 paper

NM_023110.3

p.V561A

c.1682T>C

1 paper

NM_023110.3

p.V561E

c.1682T>A

4 papers

NM_023110.3

p.V561L

c.1681G>T

1 paper

NM_023110.3

p.V561V

c.1683G>T

4 papers

NM_023110.3

p.V561L

c.1681G>C

1 paper

NM_023110.3

p.V561V

c.1683G>C

71 papers

NM_023110.3

p.V561M

c.1681G>A

1 paper

NM_023110.3

p.V561V

c.1683G>A

1 paper

NM_023110.3

p.E562*

c.1684G>T

1 paper

NM_023110.3

p.E562_Y563insAC

c.1684_1688ins6

1 paper

NM_023110.3

p.E562Q

c.1684G>C

1 paper

NM_023110.3

p.E562K

c.1684G>A