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.K493M

c.1478A>T

Surrounding Variants

1 paper

NM_018003.4

p.I492M

c.1476A>G

1 paper

NM_018003.4

p.E496G

c.1487A>G

1 paper

NM_018003.4

p.D497G

c.1490A>G

1 paper

NM_018003.4

p.D489G

c.1466A>G

1 paper

NM_018003.4

p.L499L

c.1497A>G

1 paper

NM_018003.4

p.K500I

c.1499A>T

1 paper

NM_018003.4

p.E486V

c.1457A>T

1 paper

NM_018003.4

p.K500N

c.1500A>T

1 paper

NM_018003.4

p.K504R

c.1511A>G

1 paper

NM_018003.4

p.M506V

c.1516A>G

1 paper

NM_018003.4

p.K512K

c.1536A>G

1 paper

NM_018003.4

p.E473K

c.1417G>A