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.E812V

c.2435A>T

Surrounding Variants

1 paper

NM_018003.4

p.K811I

c.2432A>T

1 paper

NM_018003.4

p.K811R

c.2432A>G

1 paper

NM_018003.4

p.H809R

c.2426A>G

1 paper

NM_018003.4

p.K817I

c.2450A>T

1 paper

NM_018003.4

p.T801A

c.2401A>G

1 paper

NM_018003.4

p.E800G

c.2399A>G

1 paper

NM_018003.4

p.K825I

c.2474A>T

1 paper

NM_018003.4

p.V796V

c.2388A>G

1 paper

NM_018003.4

p.S793C

c.2377A>T

1 paper

NM_018003.4

p.D790G

c.2369A>G

1 paper

NM_018003.4

p.I841M

c.2523A>G

1 paper

NM_018003.4

p.N848S

c.2543A>G