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.N588S

c.1763A>G

Surrounding Variants

1 paper

NM_018003.4

p.E586D

c.1758A>T

1 paper

NM_018003.4

p.L591L

c.1773A>G

1 paper

NM_018003.4

p.E594V

c.1781A>T

1 paper

NM_018003.4

p.D580V

c.1739A>T

1 paper

NM_018003.4

p.D580G

c.1739A>G

1 paper

NM_018003.4

p.M597V

c.1789A>G

1 paper

NM_018003.4

p.K578R

c.1733A>G

1 paper

NM_018003.4

p.K578E

c.1732A>G

1 paper

NM_018003.4

p.E601G

c.1802A>G

1 paper

NM_018003.4

p.M572V

c.1714A>G

1 paper

NM_018003.4

p.R607*

c.1819A>T

1 paper

NM_018003.4

p.Q569Q

c.1707A>G