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.R249_T250delFs

c.746_750del5

Surrounding Variants

1 paper

NM_002253.4

p.N253D

c.757A>G

1 paper

NM_002253.4

p.L252I

c.754C>A

1 paper

NM_002253.4

p.R249_E251delFs

c.747_753del7

1 paper

NM_002253.4

p.R249_E251del3

c.745_752del9

1 paper

NM_002253.4

p.V254L

c.760G>T

1 paper

NM_002253.4

p.V254L

c.760G>C

1 paper

NM_002253.4

p.V254M

c.760G>A

1 paper

NM_002253.4

p.T250_N253del4

c.748_758del12

1 paper

NM_002253.4

p.R249_E251del0

c.746_751del6

2 papers

NM_002253.4

p.R249_T250del0

c.745_750del6

1 paper

NM_002253.4

p.L244_T250del7

c.730_749del21

1 paper

NM_002253.4

p.G255R

c.763G>C