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.R249K

c.746G>A

Surrounding Variants

1 paper

NM_002253.4

p.T247_A248del2

c.739_743del6

5 papers

NM_002253.4

p.R249S

c.747A>T

5 papers

NM_002253.4

p.R249S

c.747A>C

1 paper

NM_002253.4

p.E240_A248del9

c.718_743del27

1 paper

NM_002253.4

p.T250P

c.748A>C

7 papers

NM_002253.4

p.A248G

c.743C>G

1 paper

NM_002253.4

p.A248E

c.743C>A

1 paper

NM_002253.4

p.V243_T247del5

c.727_740del15

1 paper

NM_002253.4

p.R249_T250del1

c.746_748delTTC

1 paper

NM_002253.4

p.A248_R249insAT

c.742_746ins6

3 papers

NM_002253.4

p.A248T

c.742G>A

1 paper

NM_002253.4

p.C246_T247del2

c.736_740del6