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

8 papers

NM_000141.5

p.A389T

c.1165G>A

Surrounding Variants

3 papers

NM_000141.5

p.A389S

c.1165G>T

1 paper

NM_000141.5

p.A389V

c.1166C>T

1 paper

NM_000141.5

p.I388I

c.1164C>T

1 paper

NM_000141.5

p.I388N

c.1163T>A

1 paper

NM_000141.5

p.I388V

c.1162A>G

1 paper

NM_000141.5

p.G384_L387del0

c.1150_1161del12

1 paper

NM_000141.5

p.C390Fs

c.1168_1169delinsATAFs

1 paper

NM_000141.5

p.F386_C390del0

c.1157_1168del12

3 papers

NM_000141.5

p.L387F

c.1161A>T

1 paper

NM_000141.5

p.L387F

c.1161A>C

1 paper

NM_000141.5

p.F386del1

c.1156_1157delGAA

1 paper

NM_000141.5

p.L387_I388insC

c.1159_1163ins3