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

3 papers

NM_000141.5

p.P253T

c.757C>A

Surrounding Variants

16 papers

NM_000141.5

p.P253S

c.757C>T

2 papers

NM_000141.5

p.S252_P253delins

c.755_757delinsTCT

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

21 papers

NM_000141.5

p.P253L

c.758C>T

455 papers

NM_000141.5

p.P253R

c.758C>G

1 paper

NM_000141.5

p.P253H

c.758C>A

2 papers

NM_000141.5

p.S252_P253delins

c.756_758delinsCTT

1 paper

NM_000141.5

p.P253P

c.759T>G