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.H681R

c.2042A>G

Surrounding Variants

1 paper

NM_018003.4

p.V682I

c.2044G>A

1 paper

NM_018003.4

p.P684P

c.2052A>G

1 paper

NM_018003.4

p.E688G

c.2063A>G

1 paper

NM_018003.4

p.Q689L

c.2066A>T

1 paper

NM_018003.4

p.K691T

c.2072A>C

1 paper

NM_018003.4

p.R669G

c.2005A>G

1 paper

NM_018003.4

p.L694L

c.2082A>G

1 paper

NM_018003.4

p.E695E

c.2085A>G

1 paper

NM_018003.4

p.K697R

c.2090A>G

1 paper

NM_018003.4

p.G699A

c.2096G>C

1 paper

NM_018003.4

p.E663G

c.1988A>G

1 paper

NM_018003.4

p.E700G

c.2099A>G