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.V274A

c.821T>C

Surrounding Variants

1 paper

NM_000141.5

p.D273_V274del1

c.818_820delCGT

2 papers

NM_000141.5

p.V274L

c.820G>T

2 papers

NM_000141.5

p.V274_E275ins4

c.820_824ins12

2 papers

NM_000141.5

p.V274L

c.820G>C

10 papers

NM_000141.5

p.V274I

c.820G>A

1 paper

NM_000141.5

p.E275*

c.823G>T

2 papers

NM_000141.5

p.E275ins4

c.823_824ins12

1 paper

NM_000141.5

p.D273D

c.819C>T

2 papers

NM_000141.5

p.D273delins

c.819delinsG

1 paper

NM_000141.5

p.D273E

c.819C>A

2 papers

NM_000141.5

p.D273G

c.818A>G

1 paper

NM_000141.5

p.E275G

c.824A>G