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.I651M

c.1953C>G

Surrounding Variants

1 paper

NM_000141.5

p.I651I

c.1953C>A

1 paper

NM_000141.5

p.I651S

c.1952T>G

1 paper

NM_000141.5

p.I651T

c.1952T>C

1 paper

NM_000141.5

p.N652Y

c.1954A>T

2 papers

NM_000141.5

p.N652D

c.1954A>G

1 paper

NM_000141.5

p.N652H

c.1954A>C

2 papers

NM_022970.4

p.N653S

c.1958A>G

NM_000141.5

p.N652S

c.1955A>G

2 papers

NM_000141.5

p.I651V

c.1951A>G

1 paper

NM_000141.5

p.N652T

c.1955A>C

1 paper

NM_000141.5

p.I651L

c.1951A>C

1 paper

NM_000141.5

p.D650del1

c.1948_1949delATC

2 papers

NM_000141.5

p.D650E

c.1950T>G