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.L576H

c.1727T>A

Surrounding Variants

1 paper

NM_000141.5

p.L576R

c.1727T>G

3 papers

NM_000141.5

p.L576P

c.1727T>C

1 paper

NM_000141.5

p.L576L

c.1728C>T

1 paper

NM_000141.5

p.L576F

c.1726C>T

1 paper

NM_000141.5

p.L576L

c.1728C>G

1 paper

NM_000141.5

p.L576V

c.1726C>G

2 papers

NM_000141.5

p.L576L

c.1728C>A

1 paper

NM_000141.5

p.L576I

c.1726C>A

2 papers

NM_000141.5

p.R577*

c.1729C>T

1 paper

NM_000141.5

p.Y575Y

c.1725C>T

1 paper

NM_000141.5

p.R577G

c.1729C>G

1 paper

NM_000141.5

p.Y575*

c.1725C>G