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.I967V

c.2899A>G

Surrounding Variants

1 paper

NM_018003.4

p.A965V

c.2894C>T

1 paper

NM_018003.4

p.K971K

c.2913G>A

1 paper

NM_018003.4

p.K955*

c.2863A>T

1 paper

NM_018003.4

p.I981V

c.2941A>G

1 paper

NM_018003.4

p.V983V

c.2949A>G

1 paper

NM_018003.4

p.L950M

c.2848T>A

1 paper

NM_018003.4

p.Y985C

c.2954A>G

1 paper

NM_018003.4

p.Y985Y

c.2955C>T

1 paper

NM_018003.4

p.D944G

c.2831A>G

1 paper

NM_018003.4

p.K1003N

c.3009A>T

1 paper

NM_018003.4

p.E929V

c.2786A>T

1 paper

NM_018003.4

p.H928H

c.2784C>T