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.C619G

c.1855T>G

Surrounding Variants

1 paper

NM_023110.3

p.C619R

c.1855T>C

1 paper

NM_023110.3

p.C619S

c.1855T>A

1 paper

NM_023110.3

p.C619F

c.1856G>T

1 paper

NM_023110.3

p.C619S

c.1856G>C

2 papers

NM_023110.3

p.K618_C619Splc

c.1855-1G>A

1 paper

NM_023110.3

p.C619Y

c.1856G>A

1 paper

NM_023110.3

p.C619C

c.1857C>T

1 paper

NM_023110.3

p.C619W

c.1857C>G

1 paper

NM_023110.3

p.C619*

c.1857C>A

1 paper

NM_023110.3

p.I620L

c.1858A>T

1 paper

NM_023110.3

p.I620V

c.1858A>G

1 paper

NM_023110.3

p.I620L

c.1858A>C