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.N641I

c.1922A>T

Surrounding Variants

1 paper

NM_018003.4

p.S640S

c.1920A>G

1 paper

NM_018003.4

p.S640T

c.1918T>A

1 paper

NM_018003.4

p.E645G

c.1934A>G

1 paper

NM_018003.4

p.E633G

c.1898A>G

1 paper

NM_018003.4

p.E633K

c.1897G>A

1 paper

NM_018003.4

p.E630E

c.1890A>G

1 paper

NM_018003.4

p.E663G

c.1988A>G

1 paper

NM_018003.4

p.R669G

c.2005A>G

1 paper

NM_018003.4

p.E613E

c.1839A>G

1 paper

NM_018003.4

p.K608M

c.1823A>T

1 paper

NM_018003.4

p.R607S

c.1821A>T

1 paper

NM_018003.4

p.R607R

c.1821A>G