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.E882fs

c.2644_2645fs

Surrounding Variants

1 paper

NM_018003.4

p.E882delFs

c.2644_2645delTC

1 paper

NM_018003.4

p.K888I

c.2663A>T

1 paper

NM_018003.4

p.T875A

c.2623A>G

1 paper

NM_018003.4

p.N873D

c.2617A>G

1 paper

NM_018003.4

p.T871T

c.2613A>G

1 paper

NM_018003.4

p.N894Y

c.2680A>T

1 paper

NM_018003.4

p.K869I

c.2606A>T

1 paper

NM_018003.4

p.T864A

c.2590A>G

1 paper

NM_018003.4

p.N904Y

c.2710A>T

1 paper

NM_018003.4

p.I906L

c.2716A>T

1 paper

NM_018003.4

p.N857S

c.2570A>G

1 paper

NM_018003.4

p.N857D

c.2569A>G