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.V294V

c.882G>C

Surrounding Variants

1 paper

NM_000141.5

p.V294V

c.882G>T

1 paper

NM_000141.5

p.V294A

c.881T>C

1 paper

NM_000141.5

p.V294E

c.881T>A

1 paper

NM_000141.5

p.E295*

c.883G>T

1 paper

NM_000141.5

p.E295Q

c.883G>C

1 paper

NM_000141.5

p.E295K

c.883G>A

3 papers

NM_000141.5

p.V294L

c.880G>T

3 papers

NM_000141.5

p.V294L

c.880G>C

4 papers

NM_000141.5

p.V294M

c.880G>A

1 paper

NM_000141.5

p.H293H

c.879C>T

7 papers

NM_000141.5

p.K296E

c.886A>G

1 paper

NM_000141.5

p.K292del1

c.874_875delCTT