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

2 papers

NM_000141.5

p.E585Q

c.1753G>C

Surrounding Variants

2 papers

NM_000141.5

p.E585*

c.1753G>T

2 papers

NM_000141.5

p.E585K

c.1753G>A

3 papers

NM_000141.5

p.M584I

c.1752G>T

3 papers

NM_000141.5

p.M584I

c.1752G>C

3 papers

NM_000141.5

p.M584I

c.1752G>A

2 papers

NM_000141.5

p.E585V

c.1754A>T

1 paper

NM_000141.5

p.E585G

c.1754A>G

1 paper

NM_000141.5

p.E585A

c.1754A>C

1 paper

NM_000141.5

p.M584R

c.1751T>G

1 paper

NM_000141.5

p.M584T

c.1751T>C

1 paper

NM_000141.5

p.M584K

c.1751T>A

2 papers

NM_000141.5

p.E585D

c.1755G>T