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

2 papers

NM_000141.5

p.I378V

c.1132A>G

Surrounding Variants

3 papers

NM_000141.5

p.E377D

c.1131G>T

2 papers

NM_000141.5

p.E377D

c.1131G>C

1 paper

NM_000141.5

p.E377G

c.1130A>G

1 paper

NM_000141.5

p.I378delFs

c.1133delA

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

1 paper

NM_000141.5

p.L376L

c.1128G>T

2 papers

NM_000141.5

p.L376M

c.1126C>A

1 paper

NM_000141.5

p.I380V

c.1138A>G

138 papers

NM_000141.5

p.Y375C

c.1124A>G

NM_022970.4

p.Y376C

c.1127A>G

21 papers

NM_000141.5

p.Y381D

c.1141T>G