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

11 papers

NM_000141.5

p.S354Y

c.1061C>A

Surrounding Variants

6 papers

NM_000141.5

p.S354F

c.1061C>T

39 papers

NM_000141.5

p.S354C

c.1061C>G

1 paper

NM_000141.5

p.N346_S354del0

c.1037_1060del24

1 paper

NM_000141.5

p.S354P

c.1060T>C

4 papers

NM_000141.5

p.A355S

c.1063G>T

1 paper

NM_000141.5

p.A355T

c.1063G>A

1 paper

NM_000141.5

p.H353Q

c.1059C>A

1 paper

NM_000141.5

p.A355V

c.1064C>T

2 papers

NM_000141.5

p.A355G

c.1064C>G

1 paper

NM_000141.5

p.H353L

c.1058A>T

2 papers

NM_000141.5

p.H353Y

c.1057C>T

1 paper

NM_000141.5

p.H353N

c.1057C>A