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.K539Q

c.1615A>C

Surrounding Variants

2 papers

NM_000141.5

p.K539*

c.1615A>T

4 papers

NM_000141.5

p.K539E

c.1615A>G

19 papers

NM_000141.5

p.M538I

c.1614G>T

18 papers

NM_000141.5

p.M538I

c.1614G>C

18 papers

NM_000141.5

p.M538I

c.1614G>A

1 paper

NM_000141.5

p.K539M

c.1616A>T

1 paper

NM_000141.5

p.K539R

c.1616A>G

2 papers

NM_000141.5

p.K539T

c.1616A>C

2 papers

NM_000141.5

p.M538R

c.1613T>G

1 paper

NM_000141.5

p.M538T

c.1613T>C

1 paper

NM_000141.5

p.M538K

c.1613T>A

3 papers

NM_000141.5

p.K539N

c.1617G>T