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.Y616S

c.1847A>C

Surrounding Variants

1 paper

NM_000141.5

p.Y616F

c.1847A>T

2 papers

NM_000141.5

p.Y616C

c.1847A>G

1 paper

NM_000141.5

p.Y616D

c.1846T>G

1 paper

NM_000141.5

p.Y616H

c.1846T>C

1 paper

NM_000141.5

p.Y616N

c.1846T>A

1 paper

NM_000141.5

p.Y616Y

c.1848C>T

2 papers

NM_000141.5

p.Y616*

c.1848C>G

2 papers

NM_000141.5

p.Y616*

c.1848C>A

24 papers

NM_001144913.1

p.L618V

c.1852T>G

NM_000141.5

p.L617V

c.1849T>G

1 paper

NM_000141.5

p.L617L

c.1849T>C

11 papers

NM_000141.5

p.L617M

c.1849T>A

NM_001144913.1

p.L618M

c.1852T>A

1 paper

NM_000141.5

p.E615D

c.1845G>T