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.L397L

c.1189C>T

Surrounding Variants

3 papers

NM_022970.4

p.L398M

c.1192C>A

NM_000141.5

p.L397M

c.1189C>A

1 paper

NM_000141.5

p.L397delFs

c.1189delG

1 paper

NM_000141.5

p.I396M

c.1188C>G

1 paper

NM_000141.5

p.I396N

c.1187T>A

1 paper

NM_000141.5

p.L397L

c.1191G>C

1 paper

NM_000141.5

p.V395V

c.1185C>G

1 paper

NM_000141.5

p.V395fs

c.1183_1184fs

1 paper

NM_000141.5

p.V395A

c.1184T>C

23 papers

NM_000141.5

p.V395D

c.1184T>A

NM_022970.4

p.V396D

c.1187T>A

1 paper

NM_000141.5

p.C398*

c.1194C>A

1 paper

NM_000141.5

p.V395F

c.1183G>T

5 papers

NM_000141.5

p.R399*

c.1195C>T