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.R630R

c.1888A>C

Surrounding Variants

1 paper

NM_000141.5

p.R630*

c.1888A>T

1 paper

NM_000141.5

p.R630G

c.1888A>G

1 paper

NM_000141.5

p.R630I

c.1889G>T

1 paper

NM_000141.5

p.R630T

c.1889G>C

1 paper

NM_000141.5

p.R630K

c.1889G>A

1 paper

NM_000141.5

p.A629A

c.1887C>T

1 paper

NM_000141.5

p.A629A

c.1887C>G

2 papers

NM_000141.5

p.A629A

c.1887C>A

1 paper

NM_000141.5

p.A629V

c.1886C>T

1 paper

NM_000141.5

p.A629G

c.1886C>G

1 paper

NM_000141.5

p.A629D

c.1886C>A

1 paper

NM_000141.5

p.R630S

c.1890A>T