Varaico: Literature-Extracted Genetic Variants

AGGF1

73 papers

RefSeq Summary

This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this ...

Pfam Domains

OCREaa 203–254UCSCOCRE domain

FHAaa 434–508UCSCFHA domain

G-patchaa 619–662UCSCG-patch domain

Gene Aliases

HGNC Name

angiogenic factor with G-patch and FHA domains 1

HGNC Alias Symbols

VG5Q; HSU84971; FLJ10283; GPATC7; GPATCH7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_018046.5

p.V202L

c.604G>C

Surrounding Variants

3 papers

NM_018046.5

p.V202L

c.604G>T

2 papers

NM_018046.5

p.A200E

c.599C>A

1 paper

NM_018046.5

p.D210V

c.629A>T

1 paper

NM_018046.5

p.L215L

c.645G>T

1 paper

NM_018046.5

p.G187G

c.561C>T

1 paper

NM_018046.5

p.S184S

c.552C>T

1 paper

NM_018046.5

p.E173*

c.517G>T

1 paper

NM_018046.5

p.Q172_E173Splc

c.516+4A>G

1 paper

NM_018046.5

p.E157_Y161del5

c.469_482del15

2 papers

NM_018046.5

p.K140E

c.418A>G

15 papers

NM_018046.5

p.E133K

c.397G>A

1 paper

NM_018046.5

p.Q130*

c.388C>T