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.S529S

c.1587T>G

Surrounding Variants

1 paper

NM_000141.5

p.S529S

c.1587T>C

1 paper

NM_000141.5

p.S529S

c.1587T>A

1 paper

NM_000141.5

p.D530Y

c.1588G>T

1 paper

NM_000141.5

p.D530H

c.1588G>C

6 papers

NM_000141.5

p.D530N

c.1588G>A

1 paper

NM_000141.5

p.S529F

c.1586C>T

1 paper

NM_000141.5

p.S529C

c.1586C>G

1 paper

NM_000141.5

p.S529Y

c.1586C>A

1 paper

NM_000141.5

p.S529A

c.1585T>G

1 paper

NM_000141.5

p.S529P

c.1585T>C

1 paper

NM_000141.5

p.S529T

c.1585T>A

1 paper

NM_000141.5

p.D530V

c.1589A>T