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.I620K

c.1859T>A

Surrounding Variants

1 paper

NM_023110.3

p.I620R

c.1859T>G

2 papers

NM_023110.3

p.I620T

c.1859T>C

1 paper

NM_023110.3

p.I620I

c.1860A>T

1 paper

NM_023110.3

p.I620L

c.1858A>T

1 paper

NM_023110.3

p.I620M

c.1860A>G

1 paper

NM_023110.3

p.I620V

c.1858A>G

1 paper

NM_023110.3

p.I620I

c.1860A>C

1 paper

NM_023110.3

p.I620L

c.1858A>C

1 paper

NM_023110.3

p.H621Y

c.1861C>T

1 paper

NM_023110.3

p.C619C

c.1857C>T

1 paper

NM_023110.3

p.H621D

c.1861C>G

1 paper

NM_023110.3

p.C619W

c.1857C>G