Varaico: Literature-Extracted Genetic Variants

UACA

71 papers

RefSeq Summary

This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apo...

Pfam Domains

Ank_2aa 76–164UCSCAnkyrin repeats (3 copies)

Ank_2aa 163–230UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

uveal autoantigen with coiled-coil domains and ankyrin repeats

HGNC Alias Symbols

FLJ10128; KIAA1561

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018003.4

p.A404A

c.1212A>G

Surrounding Variants

1 paper

NM_018003.4

p.A404T

c.1210G>A

2 papers

NM_018003.4

p.M403V

c.1207A>G

1 paper

NM_018003.4

p.Q400R

c.1199A>G

1 paper

NM_018003.4

p.K397I

c.1190A>T

1 paper

NM_018003.4

p.K397R

c.1190A>G

1 paper

NM_018003.4

p.M394V

c.1180A>G

1 paper

NM_018003.4

p.R390R

c.1170A>G

1 paper

NM_018003.4

p.H386R

c.1157A>G

1 paper

NM_018003.4

p.G382G

c.1146A>T

1 paper

NM_018003.4

p.D379V

c.1136A>T

1 paper

NM_018003.4

p.I413I

c.1239A>T

1 paper

NM_018003.4

p.H416R

c.1247A>G