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.H544D

c.1630C>G

Surrounding Variants

1 paper

NM_000141.5

p.H544Y

c.1630C>T

1 paper

NM_000141.5

p.H544N

c.1630C>A

2 papers

NM_000141.5

p.H544L

c.1631A>T

1 paper

NM_000141.5

p.K543N

c.1629A>T

1 paper

NM_000141.5

p.H544R

c.1631A>G

1 paper

NM_000141.5

p.K543K

c.1629A>G

1 paper

NM_000141.5

p.H544P

c.1631A>C

1 paper

NM_000141.5

p.K543N

c.1629A>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.K543I

c.1628A>T