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.Q427*

c.1279C>T

Surrounding Variants

1 paper

NM_000141.5

p.Q427E

c.1279C>G

1 paper

NM_000141.5

p.Q427L

c.1280A>T

1 paper

NM_000141.5

p.Q427R

c.1280A>G

3 papers

NM_022970.4

p.R427K

c.1280G>A

NM_000141.5

p.R426K

c.1277G>A

1 paper

NM_000141.5

p.R425R

c.1275G>C

1 paper

NM_000141.5

p.R425L

c.1274G>T

3 papers

NM_000141.5

p.R425Q

c.1274G>A

3 papers

NM_000141.5

p.R425W

c.1273C>T

1 paper

NM_000141.5

p.R425R

c.1273C>A

1 paper

NM_000141.5

p.L424fs

c.1270_1271fs

1 paper

NM_000141.5

p.T429_V430Splc

c.1287+1G>T

1 paper

NM_000141.5

p.T429_V430Splc

c.1287+1G>A