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.R649R

c.1947A>G

Surrounding Variants

4 papers

NM_000141.5

p.R649S

c.1947A>T

4 papers

NM_000141.5

p.R649S

c.1947A>C

7 papers

NM_001144913.1

p.D651Y

c.1951G>T

NM_000141.5

p.D650Y

c.1948G>T

3 papers

NM_000141.5

p.D650H

c.1948G>C

NM_001144913.1

p.D651H

c.1951G>C

2 papers

NM_000141.5

p.D650N

c.1948G>A

8 papers

NM_000141.5

p.D650V

c.1949A>T

1 paper

NM_000141.5

p.R649*

c.1945A>T

2 papers

NM_000141.5

p.D650G

c.1949A>G

3 papers

NM_000141.5

p.D650A

c.1949A>C

2 papers

NM_000141.5

p.D650E

c.1950T>G

2 papers

NM_000141.5

p.D650E

c.1950T>A

1 paper

NM_000141.5

p.A648A

c.1944C>G