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.Y480C

c.1439A>G

Surrounding Variants

1 paper

NM_002253.4

p.P479Q

c.1436C>A

3 papers

NM_002253.4

p.P479S

c.1435C>T

54 papers

NM_002253.4

p.C482R

c.1444T>C

1 paper

NM_002253.4

p.C482S

c.1444T>A

1 paper

NM_002253.4

p.C482S

c.1445G>C

1 paper

NM_002253.4

p.C482*

c.1446T>A

1 paper

NM_002253.4

p.E483K

c.1447G>A

1 paper

NM_002253.4

p.E484K

c.1450G>A

1 paper

NM_002253.4

p.V476A

c.1427T>C

7 papers

NM_002253.4

p.V476L

c.1426G>T

7 papers

NM_002253.4

p.V476L

c.1426G>C

1 paper

NM_002253.4

p.W485G

c.1453T>G