Varaico: Literature-Extracted Genetic Variants

Gene:KDR
Variant:p.L555F

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.L555F
c.1665G>T
Surrounding Variants
1 paper
NM_002253.4
p.L555F
c.1665G>C
1 paper
NM_002253.4
p.Q556H
c.1668A>T
1 paper
NM_002253.4
p.Q556H
c.1668A>C
1 paper
NM_002253.4
p.P557H
c.1670C>A
1 paper
NM_002253.4
p.M559L
c.1675A>T
1 paper
NM_002253.4
p.M559L
c.1675A>C
1 paper
NM_002253.4
p.M559R
c.1676T>G
1 paper
NM_002253.4
p.P551S
c.1651C>T
1 paper
NM_002253.4
p.R549K
c.1646G>A
1 paper
NM_002253.4
p.R549W
c.1645A>T
2 papers
NM_002253.4
p.R549Splc
c.1646-2A>T
1 paper
NM_002253.4
p.Q564L
c.1691A>T
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