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.R580_R592delFs

c.1740_1774del35

Surrounding Variants

1 paper

NM_000141.5

p.R592R

c.1776T>G

1 paper

NM_000141.5

p.R592R

c.1776T>C

1 paper

NM_000141.5

p.R592R

c.1776T>A

1 paper

NM_000141.5

p.V593F

c.1777G>T

1 paper

NM_000141.5

p.R592L

c.1775G>T

1 paper

NM_000141.5

p.V593L

c.1777G>C

1 paper

NM_000141.5

p.R592P

c.1775G>C

3 papers

NM_000141.5

p.R592H

c.1775G>A

1 paper

NM_000141.5

p.V593I

c.1777G>A

1 paper

NM_000141.5

p.V593G

c.1778T>G

1 paper

NM_000141.5

p.V593A

c.1778T>C

1 paper

NM_000141.5

p.V593D

c.1778T>A