Varaico: Literature-Extracted Genetic Variants

Gene:KDR
Variant:p.Q472H

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
195 papers
NM_002253.4
p.Q472H
c.1416A>C
Surrounding Variants
217 papers
NM_002253.4
p.Q472H
c.1416A>T
2 papers
NM_002253.4
p.Q472R
c.1415A>G
1 paper
NM_002253.4
p.A473V
c.1418C>T
1 paper
NM_002253.4
p.V474F
c.1420G>T
1 paper
NM_002253.4
p.V474L
c.1420G>C
1 paper
NM_002253.4
p.S471Splc
c.1413-1G>A
1 paper
NM_002253.4
p.S475L
c.1424C>T
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.V476A
c.1427T>C
1 paper
NM_002253.4
p.S471Splc
c.1413-10T>C
3 papers
NM_002253.4
p.P479S
c.1435C>T
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