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.H254Q

c.762C>G

Surrounding Variants

2 papers

NM_000141.5

p.H254Q

c.762C>A

8 papers

NM_000141.5

p.R255W

c.763C>T

2 papers

NM_000141.5

p.H254R

c.761A>G

1 paper

NM_000141.5

p.R255P

c.764G>C

11 papers

NM_000141.5

p.R255Q

c.764G>A

12 papers

NM_000141.5

p.H254Y

c.760C>T

1 paper

NM_000141.5

p.P253P

c.759T>G

1 paper

NM_000141.5

p.R255R

c.765G>T

1 paper

NM_000141.5

p.R255R

c.765G>A

21 papers

NM_000141.5

p.P253L

c.758C>T

2 papers

NM_000141.5

p.P256S

c.766C>T

455 papers

NM_000141.5

p.P253R

c.758C>G