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

3 papers

NM_000141.5

p.L550P

c.1649T>C

Surrounding Variants

1 paper

NM_000141.5

p.L550R

c.1649T>G

2 papers

NM_000141.5

p.L550H

c.1649T>A

3 papers

NM_000141.5

p.L550L

c.1650T>G

1 paper

NM_000141.5

p.L550L

c.1650T>C

11 papers

NM_000141.5

p.L550L

c.1650T>A

7 papers

NM_001144913.1

p.L551F

c.1651C>T

NM_000141.5

p.L550F

c.1648C>T

2 papers

NM_000141.5

p.L550V

c.1648C>G

3 papers

NM_000141.5

p.L550I

c.1648C>A

162 papers

NM_000141.5

p.N549K

c.1647T>G

NM_022970.4

p.N550K

c.1650T>G

1 paper

NM_000141.5

p.N549N

c.1647T>C

166 papers

NM_000141.5

p.N549K

c.1647T>A

NM_022970.4

p.N550K

c.1650T>A

12 papers

NM_000141.5

p.L551F

c.1651C>T

NM_001144913.1

p.L552F

c.1654C>T