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.K545E

c.1633A>G

Surrounding Variants

1 paper

NM_000141.5

p.K545*

c.1633A>T

1 paper

NM_000141.5

p.K545Q

c.1633A>C

1 paper

NM_000141.5

p.H544H

c.1632C>T

8 papers

NM_000141.5

p.H544Q

c.1632C>G

8 papers

NM_000141.5

p.H544Q

c.1632C>A

1 paper

NM_000141.5

p.K545M

c.1634A>T

1 paper

NM_000141.5

p.K545R

c.1634A>G

2 papers

NM_000141.5

p.K545T

c.1634A>C

2 papers

NM_000141.5

p.K545N

c.1635G>T

1 paper

NM_000141.5

p.K545fs

c.1633_1634fs

2 papers

NM_000141.5

p.K545N

c.1635G>C

1 paper

NM_000141.5

p.K545K

c.1635G>A