Varaico: Literature-Extracted Genetic Variants

Gene:KDR
Variant:p.D1056N

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.D1056N
c.3166G>A
Surrounding Variants
1 paper
NM_002253.4
p.P1057fs
c.3169_3170fs
5 papers
NM_002253.4
p.Y1054F
c.3161A>T
1 paper
NM_002253.4
p.P1057delFs
c.3170delG
1 paper
NM_002253.4
p.I1053M
c.3159T>G
2 papers
NM_002253.4
p.I1053F
c.3157A>T
1 paper
NM_002253.4
p.I1053L
c.3157A>C
7 papers
NM_002253.4
p.Y1059F
c.3176A>T
1 paper
NM_002253.4
p.D1052G
c.3155A>G
6 papers
NM_002253.4
p.D1052N
c.3154G>A
1 paper
NM_002253.4
p.V1060I
c.3178G>A
9 papers
NM_002253.4
p.R1051Q
c.3152G>A
3 papers
NM_002253.4
p.R1051W
c.3151C>T
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