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.L689I

c.2065C>A

Surrounding Variants

1 paper

NM_023110.3

p.L689L

c.2067C>G

5 papers

NM_023110.3

p.V688L

c.2062G>T

5 papers

NM_023110.3

p.V688L

c.2062G>C

1 paper

NM_001174064.2

p.L680L

c.2038C>T

1 paper

NM_023110.3

p.L690R

c.2069T>G

2 papers

NM_023110.3

p.L690P

c.2069T>C

1 paper

NM_023110.3

p.G687delins

c.2059_2061delinsGAC

1 paper

NM_023110.3

p.L690L

c.2070G>T

1 paper

NM_023110.3

p.G687V

c.2060G>T

1 paper

NM_023110.3

p.L690L

c.2070G>C

1 paper

NM_023110.3

p.L690L

c.2070G>A

3 papers

NM_023110.3

p.W691R

c.2071T>C