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.V330_A331del2

c.988_992del6

Surrounding Variants

1 paper

NM_002253.4

p.A331fs

c.991_992fs

1 paper

NM_002253.4

p.A331G

c.992C>G

1 paper

NM_002253.4

p.G333_S334insA

c.997_1001ins3

1 paper

NM_002253.4

p.A331T

c.991G>A

2 papers

NM_002253.4

p.V330F

c.988G>T

1 paper

NM_002253.4

p.V330_G333del4

c.988_998del12

1 paper

NM_002253.4

p.P328_G333del6

c.982_998del18

1 paper

NM_002253.4

p.S334I

c.1001G>T

1 paper

NM_002253.4

p.S334T

c.1001G>C

1 paper

NM_002253.4

p.S334N

c.1001G>A

1 paper

NM_002253.4

p.G335Fs

c.1003delinsGAFs

1 paper

NM_002253.4

p.P328L

c.983C>T