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

1–12 of 50 variants

15 papers

NM_018046.5

p.E133K

c.397G>A

3 papers

NM_018046.5

p.V202L

c.604G>C

3 papers

NM_018046.5

p.V202L

c.604G>T

3 papers

NM_018046.5

p.R249H

c.746G>A

3 papers

NM_018046.5

p.P698T

c.2092C>A

2 papers

NM_018046.5

p.K140E

c.418A>G

2 papers

NM_018046.5

p.A200E

c.599C>A

2 papers

NM_018046.5

p.E542K

c.1624G>A

1 paper

NM_018046.5

p.R10W

c.28C>T

1 paper

NM_018046.5

p.E47G

c.140A>G

1 paper

NM_018046.5

p.T53_E54delFs

c.157_161del5

1 paper

NM_018046.5

p.A60T

c.178G>A