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

1 paper

NM_018046.5

p.W682G

c.2044T>G

Surrounding Variants

1 paper

NM_018046.5

p.K679delFs

c.2035delA

1 paper

NM_018046.5

p.K677K

c.2031G>A

1 paper

NM_018046.5

p.L673L

c.2019T>A

1 paper

NM_018046.5

p.V671I

c.2011G>A

3 papers

NM_018046.5

p.P698T

c.2092C>A

1 paper

NM_018046.5

p.R655*

c.1963C>T

1 paper

NM_018046.5

p.R654Q

c.1961G>A

1 paper

NM_018046.5

p.Q652*

c.1954C>T

1 paper

NM_018046.5

p.R606K

c.1817G>A

1 paper

NM_018046.5

p.E575K

c.1723G>A

2 papers

NM_018046.5

p.E542K

c.1624G>A

1 paper

NM_018046.5

p.E527E

c.1581A>G