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.Y922*

c.2766C>G

Surrounding Variants

1 paper

NM_018003.4

p.Y922*

c.2766C>A

1 paper

NM_018003.4

p.S924R

c.2770A>C

1 paper

NM_018003.4

p.S924R

c.2772C>G

1 paper

NM_018003.4

p.S924R

c.2772C>A

1 paper

NM_018003.4

p.K919I

c.2756A>T

1 paper

NM_018003.4

p.H928H

c.2784C>T

1 paper

NM_018003.4

p.E929V

c.2786A>T

1 paper

NM_018003.4

p.Q915*

c.2743C>T

1 paper

NM_018003.4

p.E912D

c.2736A>T

1 paper

NM_018003.4

p.E912G

c.2735A>G

1 paper

NM_018003.4

p.I906L

c.2716A>T

1 paper

NM_018003.4

p.N904Y

c.2710A>T