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.Q556P

c.1667A>C

Surrounding Variants

1 paper

NM_000141.5

p.Q556L

c.1667A>T

2 papers

NM_000141.5

p.Q556R

c.1667A>G

1 paper

NM_000141.5

p.Q556H

c.1668G>T

2 papers

NM_000141.5

p.Q556H

c.1668G>C

1 paper

NM_000141.5

p.Q556Q

c.1668G>A

2 papers

NM_000141.5

p.Q556*

c.1666C>T

1 paper

NM_000141.5

p.Q556E

c.1666C>G

1 paper

NM_000141.5

p.Q556K

c.1666C>A

2 papers

NM_000141.5

p.D557Y

c.1669G>T

1 paper

NM_000141.5

p.D557H

c.1669G>C

1 paper

NM_000141.5

p.D557N

c.1669G>A

1 paper

NM_000141.5

p.T555T

c.1665A>T