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

8 papers

NM_000141.5

p.K601E

c.1801A>G

Surrounding Variants

1 paper

NM_000141.5

p.K601*

c.1801A>T

1 paper

NM_000141.5

p.K601Q

c.1801A>C

2 papers

NM_000141.5

p.F600F

c.1800C>T

1 paper

NM_000141.5

p.F600L

c.1800C>G

1 paper

NM_000141.5

p.F600L

c.1800C>A

1 paper

NM_000141.5

p.K601M

c.1802A>T

2 papers

NM_000141.5

p.K601R

c.1802A>G

2 papers

NM_000141.5

p.K601T

c.1802A>C

1 paper

NM_000141.5

p.F600C

c.1799T>G

1 paper

NM_000141.5

p.F600S

c.1799T>C

3 papers

NM_000141.5

p.F600Y

c.1799T>A

3 papers

NM_000141.5

p.K601N

c.1803G>T