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

56 papers

NM_000141.5

p.S252L

c.755C>T

Surrounding Variants

628 papers

NM_000141.5

p.S252W

c.755C>G

3 papers

NM_000141.5

p.S252*

c.755C>A

3 papers

NM_000141.5

p.S252A

c.754T>G

1 paper

NM_000141.5

p.S252P

c.754T>C

2 papers

NM_000141.5

p.S252T

c.754T>A

1 paper

NM_000141.5

p.S252S

c.756G>C

1 paper

NM_000141.5

p.S252S

c.756G>A

1 paper

NM_000141.5

p.S252delins

c.755_756delinsTT

1 paper

NM_000141.5

p.S252delFs

c.755delG

2 papers

NM_000141.5

p.S252delins

c.755_756delinsTC

16 papers

NM_000141.5

p.P253S

c.757C>T

3 papers

NM_000141.5

p.P253T

c.757C>A