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.V238A

c.713T>C

Surrounding Variants

1 paper

NM_002253.4

p.V238I

c.712G>A

1 paper

NM_002253.4

p.L236_S237del2

c.706_710del6

1 paper

NM_002253.4

p.I234_S237del4

c.700_710del12

1 paper

NM_002253.4

p.S229_S237del9

c.685_710del27

1 paper

NM_002253.4

p.S237_V238del2

c.709_713del6

1 paper

NM_002253.4

p.G239E

c.716G>A

1 paper

NM_002253.4

p.S237P

c.709T>C

1 paper

NM_002253.4

p.E240K

c.718G>A

2 papers

NM_002253.4

p.L236L

c.708A>G

1 paper

NM_002253.4

p.L228_E235del8

c.682_704del24

1 paper

NM_002253.4

p.V238_G239del2

c.712_716del6

1 paper

NM_002253.4

p.V227_E235del9

c.679_704del27