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.P373Q

c.1118C>A

Surrounding Variants

2 papers

NM_000141.5

p.P373L

c.1118C>T

2 papers

NM_000141.5

p.P373R

c.1118C>G

1 paper

NM_000141.5

p.P373S

c.1117C>T

2 papers

NM_000141.5

p.P373T

c.1117C>A

1 paper

NM_000141.5

p.D374H

c.1120G>C

4 papers

NM_000141.5

p.S372F

c.1115C>T

83 papers

NM_022970.4

p.S373C

c.1118C>G

NM_000141.5

p.S372C

c.1115C>G

6 papers

NM_000141.5

p.S372Y

c.1115C>A

3 papers

NM_000141.5

p.D374G

c.1121A>G

NM_022970.4

p.D375G

c.1124A>G

1 paper

NM_000141.5

p.S372fs

c.1114_1115fs

1 paper

NM_000141.5

p.Y375H

c.1123T>C

1 paper

NM_000141.5

p.I369_A371delins

c.1107_1113delinsCTCG