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.R349T

c.1046G>C

Surrounding Variants

1 paper

NM_002253.4

p.R349K

c.1046G>A

1 paper

NM_002253.4

p.V348_R349del2

c.1042_1046del6

1 paper

NM_002253.4

p.V348Fs

c.1043delinsCCTFs

1 paper

NM_002253.4

p.V348D

c.1043T>A

1 paper

NM_002253.4

p.E346_R347del2

c.1036_1040del6

1 paper

NM_002253.4

p.T343_R349del7

c.1027_1046del21

1 paper

NM_002253.4

p.V348I

c.1042G>A

1 paper

NM_002253.4

p.T343_R347del5

c.1027_1040del15

3 papers

NM_002253.4

p.P351S

c.1051C>T

14 papers

NM_002253.4

p.R347H

c.1040G>A

1 paper

NM_002253.4

p.P351H

c.1052C>A

5 papers

NM_002253.4

p.R347C

c.1039C>T