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.L614R

c.1841T>G

Surrounding Variants

1 paper

NM_023110.3

p.L614P

c.1841T>C

1 paper

NM_023110.3

p.L614Q

c.1841T>A

1 paper

NM_023110.3

p.L614L

c.1842G>T

1 paper

NM_023110.3

p.L614L

c.1842G>C

1 paper

NM_023110.3

p.L614L

c.1842G>A

4 papers

NM_023110.3

p.L614V

c.1840C>G

2 papers

NM_023110.3

p.L614M

c.1840C>A

1 paper

NM_023110.3

p.Y613*

c.1839T>G

1 paper

NM_023110.3

p.Y613*

c.1839T>A

1 paper

NM_023110.3

p.A615S

c.1843G>T

1 paper

NM_023110.3

p.A615P

c.1843G>C

1 paper

NM_023110.3

p.A615T

c.1843G>A