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

112 papers

NM_000141.5

p.C382R

c.1144T>C

NM_022970.4

p.C383R

c.1147T>C

Surrounding Variants

2 papers

NM_000141.5

p.C382S

c.1144T>A

1 paper

NM_000141.5

p.C382F

c.1145G>T

1 paper

NM_000141.5

p.C382S

c.1145G>C

9 papers

NM_000141.5

p.C382Y

c.1145G>A

1 paper

NM_000141.5

p.Y381*

c.1143C>G

1 paper

NM_000141.5

p.Y381*

c.1143C>A

1 paper

NM_000141.5

p.C382W

c.1146C>G

1 paper

NM_000141.5

p.C382fs

c.1144_1145fs

1 paper

NM_000141.5

p.Y381F

c.1142A>T

1 paper

NM_000141.5

p.Y381C

c.1142A>G

1 paper

NM_000141.5

p.Y381S

c.1142A>C

21 papers

NM_000141.5

p.Y381D

c.1141T>G