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.N726I

c.2177A>T

Surrounding Variants

1 paper

NM_018003.4

p.K721K

c.2163A>G

1 paper

NM_018003.4

p.K721E

c.2161A>G

1 paper

NM_018003.4

p.E718E

c.2154A>G

1 paper

NM_018003.4

p.Q716Q

c.2148A>G

1 paper

NM_018003.4

p.T737S

c.2209A>T

1 paper

NM_018003.4

p.E739G

c.2216A>G

1 paper

NM_018003.4

p.K741N

c.2223A>T

1 paper

NM_018003.4

p.K711E

c.2131A>G

1 paper

NM_018003.4

p.Y744C

c.2231A>G

1 paper

NM_018003.4

p.K704K

c.2112G>A

1 paper

NM_018003.4

p.G702R

c.2104G>C

1 paper

NM_018003.4

p.G702R

c.2104G>A