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.M540_I541insFs

c.1620_1621ins49

Surrounding Variants

4 papers

NM_001144913.1

p.M541I

c.1623G>T

NM_000141.5

p.M540I

c.1620G>T

4 papers

NM_001144913.1

p.M541I

c.1623G>C

NM_000141.5

p.M540I

c.1620G>C

4 papers

NM_001144913.1

p.M541I

c.1623G>A

NM_000141.5

p.M540I

c.1620G>A

1 paper

NM_000141.5

p.M540R

c.1619T>G

1 paper

NM_000141.5

p.M540T

c.1619T>C

2 papers

NM_000141.5

p.M540K

c.1619T>A

3 papers

NM_000141.5

p.I541F

c.1621A>T

1 paper

NM_000141.5

p.I541V

c.1621A>G

1 paper

NM_000141.5

p.I541L

c.1621A>C

1 paper

NM_000141.5

p.I541S

c.1622T>G

2 papers

NM_000141.5

p.I541T

c.1622T>C

1 paper

NM_000141.5

p.I541N

c.1622T>A