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_001144913.1

p.M539L

c.1615A>C

NM_000141.5

p.M538L

c.1612A>C

Surrounding Variants

3 papers

NM_001144913.1

p.M539L

c.1615A>T

NM_000141.5

p.M538L

c.1612A>T

2 papers

NM_000141.5

p.M538V

c.1612A>G

2 papers

NM_000141.5

p.M538R

c.1613T>G

1 paper

NM_000141.5

p.M538T

c.1613T>C

1 paper

NM_000141.5

p.M538K

c.1613T>A

30 papers

NM_000141.5

p.M537I

c.1611G>T

NM_001144913.1

p.M538I

c.1614G>T

30 papers

NM_000141.5

p.M537I

c.1611G>C

NM_001144913.1

p.M538I

c.1614G>C

30 papers

NM_000141.5

p.M537I

c.1611G>A

NM_001144913.1

p.M538I

c.1614G>A

1 paper

NM_000141.5

p.M537R

c.1610T>G

1 paper

NM_000141.5

p.M537T

c.1610T>C

2 papers

NM_000141.5

p.M537K

c.1610T>A

19 papers

NM_000141.5

p.M538I

c.1614G>T