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.M598L

c.1792A>T

Surrounding Variants

3 papers

NM_000141.5

p.M598V

c.1792A>G

1 paper

NM_000141.5

p.M598L

c.1792A>C

1 paper

NM_000141.5

p.M598R

c.1793T>G

1 paper

NM_000141.5

p.M598T

c.1793T>C

1 paper

NM_000141.5

p.M598K

c.1793T>A

1 paper

NM_000141.5

p.Q597H

c.1791G>T

1 paper

NM_000141.5

p.Q597H

c.1791G>C

1 paper

NM_000141.5

p.Q597Q

c.1791G>A

2 papers

NM_000141.5

p.M598I

c.1794G>T

2 papers

NM_000141.5

p.M598I

c.1794G>C

2 papers

NM_000141.5

p.M598I

c.1794G>A

1 paper

NM_000141.5

p.Q597L

c.1790A>T