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.E250Q

c.748G>C

Surrounding Variants

2 papers

NM_000141.5

p.E250*

c.748G>T

2 papers

NM_000141.5

p.E250K

c.748G>A

2 papers

NM_000141.5

p.E250Splc

c.749-2A>T

1 paper

NM_000141.5

p.E250G

c.749A>G

1 paper

NM_000141.5

p.E250A

c.749A>C

2 papers

NM_000141.5

p.E250E

c.750G>A

8 papers

NM_000141.5

p.R251*

c.751C>T

1 paper

NM_000141.5

p.E250delFs

c.750delC

2 papers

NM_000141.5

p.R251L

c.752G>T

1 paper

NM_000141.5

p.R251ins2

c.752_753ins6

1 paper

NM_000141.5

p.R251P

c.752G>C

16 papers

NM_000141.5

p.R251Q

c.752G>A