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.E1022_V1023del2

c.3064_3068del6

Surrounding Variants

1 paper

NM_018003.4

p.E1022_V1023del1

c.3065_3067delCTT

1 paper

NM_018003.4

p.N1026Y

c.3076A>T

1 paper

NM_018003.4

p.S1019N

c.3056G>A

1 paper

NM_018003.4

p.N1030S

c.3089A>G

1 paper

NM_018003.4

p.D1031V

c.3092A>T

1 paper

NM_018003.4

p.Q1014Q

c.3042A>G

1 paper

NM_018003.4

p.Q1014R

c.3041A>G

1 paper

NM_018003.4

p.T1039S

c.3115A>T

1 paper

NM_018003.4

p.Q1008R

c.3023A>G

1 paper

NM_018003.4

p.K1003N

c.3009A>T

1 paper

NM_001008224.3

p.I1038T

c.3113T>C

1 paper

NM_018003.4

p.R1059K

c.3176G>A