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

1 paper

NM_000141.5

p.E595E

c.1785G>A

Surrounding Variants

2 papers

NM_000141.5

p.E595D

c.1785G>T

2 papers

NM_000141.5

p.E595D

c.1785G>C

2 papers

NM_000141.5

p.E596*

c.1786G>T

1 paper

NM_000141.5

p.E596Q

c.1786G>C

4 papers

NM_000141.5

p.E596K

c.1786G>A

1 paper

NM_000141.5

p.E595V

c.1784A>T

1 paper

NM_000141.5

p.E595G

c.1784A>G

1 paper

NM_000141.5

p.E595A

c.1784A>C

2 papers

NM_000141.5

p.E595*

c.1783G>T

2 papers

NM_000141.5

p.E595Q

c.1783G>C

2 papers

NM_000141.5

p.E595K

c.1783G>A

1 paper

NM_000141.5

p.E596V

c.1787A>T