Varaico: Literature-Extracted Genetic Variants

KDR

1,863 papers

RefSeq Summary

Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor,...

Pfam Domains

VEGFR1-3_N_Ig-likeaa 30–128UCSCVEGFR1-3, N-terminal Ig-like domain

VEGFR-1-like_Ig-likeaa 133–218UCSCVascular endothelial growth factor receptor 1-like, Ig-like domain

igaa 232–313UCSCImmunoglobulin domain

I-setaa 332–417UCSCImmunoglobulin I-set domain

Ig_VEGFR-1-like_5thaa 418–549UCSCVEGFR-1-like, immunoglobulin-like domain

Ig_3aa 550–646UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

kinase insert domain receptor

HGNC Alias Symbols

FLK1; VEGFR; VEGFR2; CD309

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002253.4

p.E597K

c.1789G>A

Surrounding Variants

1 paper

NM_002253.4

p.E597*

c.1789G>T

1 paper

NM_002253.4

p.L598M

c.1792T>A

1 paper

NM_002253.4

p.G596R

c.1786G>C

1 paper

NM_002253.4

p.G596R

c.1786G>A

1 paper

NM_002253.4

p.V595E

c.1784T>A

1 paper

NM_002253.4

p.P599A

c.1795C>G

1 paper

NM_002253.4

p.H594Y

c.1780C>T

1 paper

NM_002253.4

p.T600delins

c.1798delinsTACA

1 paper

NM_002253.4

p.P599delFs

c.1797delG

1 paper

NM_002253.4

p.T600fs

c.1798_1799fs

1 paper

NM_002253.4

p.N580_P592delFs

c.1740_1774del35

1 paper

NM_002253.4

p.P592S

c.1774C>T