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

1 paper

NM_002253.4

p.Y354*

c.1062C>G

Surrounding Variants

1 paper

NM_002253.4

p.Y354*

c.1062C>A

1 paper

NM_002253.4

p.L355F

c.1063C>T

1 paper

NM_002253.4

p.G356S

c.1066G>A

1 paper

NM_002253.4

p.G356D

c.1067G>A

1 paper

NM_002253.4

p.A342_P351del10

c.1024_1052del30

2 papers

NM_002253.4

p.Y357N

c.1069T>A

1 paper

NM_002253.4

p.I350_G356del7

c.1048_1067del21

3 papers

NM_002253.4

p.A352V

c.1055C>T

2 papers

NM_002253.4

p.A352S

c.1054G>T

1 paper

NM_002253.4

p.P351H

c.1052C>A

3 papers

NM_002253.4

p.P351S

c.1051C>T

1 paper

NM_002253.4

p.P358L

c.1073C>T