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

2 papers

NM_000141.5

p.I288M

c.864C>G

Surrounding Variants

2 papers

NM_000141.5

p.I288fs

c.862_863fs

1 paper

NM_000141.5

p.V280_I288delFs

c.838_863del26

6 papers

NM_000141.5

p.I288S

c.863T>G

7 papers

NM_000141.5

p.I288N

c.863T>A

1 paper

NM_000141.5

p.Q289K

c.865C>A

47 papers

NM_000141.5

p.Q289P

c.866A>C

1 paper

NM_000141.5

p.I288_Q289insC

c.862_866ins3

1 paper

NM_000141.5

p.Q289H

c.867G>T

1 paper

NM_000141.5

p.Q289H

c.867G>C

1 paper

NM_000141.5

p.P286_Q289del0

c.858_866del9

1 paper

NM_000141.5

p.H287H

c.861C>T

1 paper

NM_000141.5

p.H287fs

c.859_860fs