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

2 papers

NM_018046.5

p.E542K

c.1624G>A

Surrounding Variants

1 paper

NM_018046.5

p.E527E

c.1581A>G

1 paper

NM_018046.5

p.N483T

c.1448A>C

1 paper

NM_018046.5

p.T480K

c.1439C>A

1 paper

NM_018046.5

p.Q467H

c.1401A>C

1 paper

NM_018046.5

p.Q467H

c.1401A>T

1 paper

NM_018046.5

p.E575K

c.1723G>A

1 paper

NM_018046.5

p.R606K

c.1817G>A

1 paper

NM_018046.5

p.Q421H

c.1263G>C

1 paper

NM_018046.5

p.Q421H

c.1263G>T

1 paper

NM_018046.5

p.E402*

c.1204G>T

1 paper

NM_018046.5

p.S388R

c.1164T>A

1 paper

NM_018046.5

p.S388R

c.1164T>G