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.I547I

c.1641C>A

Surrounding Variants

1 paper

NM_000141.5

p.I547I

c.1641C>T

2 papers

NM_000141.5

p.I547M

c.1641C>G

1 paper

NM_000141.5

p.I547S

c.1640T>G

1 paper

NM_000141.5

p.I547T

c.1640T>C

1 paper

NM_000141.5

p.I547N

c.1640T>A

2 papers

NM_000141.5

p.I548L

c.1642A>T

11 papers

NM_000141.5

p.I548V

c.1642A>G

3 papers

NM_001144913.1

p.I549L

c.1645A>C

NM_000141.5

p.I548L

c.1642A>C

1 paper

NM_000141.5

p.I548fs

c.1642_1643fs

1 paper

NM_000141.5

p.I548R

c.1643T>G

1 paper

NM_000141.5

p.I548T

c.1643T>C

1 paper

NM_000141.5

p.I548K

c.1643T>A