Varaico: Literature-Extracted Genetic Variants

FGFR2

2,640 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family member...

Pfam Domains

Ig_3aa 38–110UCSCImmunoglobulin domain

I-setaa 72–159UCSCImmunoglobulin I-set domain

Ig_3aa 167–257UCSCImmunoglobulin domain

PK_Tyr_Ser-Thraa 392–668UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 2

HGNC Previous Symbols

KGFR; BEK; CFD1; JWS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000141.5

p.L560L

c.1680C>T

Surrounding Variants

1 paper

NM_000141.5

p.L560L

c.1680C>G

1 paper

NM_000141.5

p.L560L

c.1680C>A

1 paper

NM_000141.5

p.Y561D

c.1681T>G

1 paper

NM_000141.5

p.L560R

c.1679T>G

2 papers

NM_000141.5

p.Y561H

c.1681T>C

1 paper

NM_000141.5

p.L560P

c.1679T>C

1 paper

NM_000141.5

p.Y561N

c.1681T>A

1 paper

NM_000141.5

p.L560H

c.1679T>A

7 papers

NM_000141.5

p.L560F

c.1678C>T

NM_001144914.1

p.L448F

c.1342C>T

1 paper

NM_000141.5

p.L560V

c.1678C>G

1 paper

NM_000141.5

p.L560I

c.1678C>A

1 paper

NM_000141.5

p.Y561F

c.1682A>T