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

138 papers

NM_000141.5

p.Y375C

c.1124A>G

NM_022970.4

p.Y376C

c.1127A>G

Surrounding Variants

1 paper

NM_000141.5

p.Y375H

c.1123T>C

1 paper

NM_000141.5

p.E368_D374del7

c.1102_1121del21

2 papers

NM_000141.5

p.L376M

c.1126C>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.L376L

c.1128G>T

1 paper

NM_000141.5

p.D374H

c.1120G>C

1 paper

NM_000141.5

p.E377*

c.1129G>T

1 paper

NM_000141.5

p.E377Q

c.1129G>C

2 papers

NM_000141.5

p.E377K

c.1129G>A

NM_001144913.1

p.E378K

c.1132G>A

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.P373Q

c.1118C>A