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.M611I

c.1833G>T

Surrounding Variants

1 paper

NM_023110.3

p.M611I

c.1833G>C

1 paper

NM_023110.3

p.M611I

c.1833G>A

1 paper

NM_023110.3

p.M611R

c.1832T>G

1 paper

NM_023110.3

p.M611T

c.1832T>C

1 paper

NM_023110.3

p.M611K

c.1832T>A

1 paper

NM_023110.3

p.E612*

c.1834G>T

1 paper

NM_023110.3

p.E612Q

c.1834G>C

1 paper

NM_023110.3

p.E612K

c.1834G>A

1 paper

NM_023110.3

p.E612fs

c.1834_1835fs

1 paper

NM_023110.3

p.E612V

c.1835A>T

1 paper

NM_023110.3

p.M611L

c.1831A>T

1 paper

NM_023110.3

p.E612G

c.1835A>G