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

15 papers

NM_000141.5

p.N549S

c.1646A>G

NM_022970.4

p.N550S

c.1649A>G

Surrounding Variants

2 papers

NM_000141.5

p.N549I

c.1646A>T

26 papers

NM_000141.5

p.N549T

c.1646A>C

NM_001144913.1

p.N550T

c.1649A>C

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

2 papers

NM_000141.5

p.N549Y

c.1645A>T

26 papers

NM_000141.5

p.N549D

c.1645A>G

NM_001144913.1

p.N550D

c.1648A>G

81 papers

NM_000141.5

p.N549H

c.1645A>C

NM_022970.4

p.N550H

c.1648A>C

NM_001144913.1

p.N437H

c.1309A>C

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

1 paper

NM_000141.5

p.I548I

c.1644A>T