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.Q1333*

c.3997C>T

Surrounding Variants

1 paper

NM_018003.4

p.K1332*

c.3994A>T

1 paper

NM_018003.4

p.L1338del1

c.4012_4013delAAG

1 paper

NM_018003.4

p.D1327N

c.3979G>A

2 papers

NM_018003.4

p.Q1340H

c.4020A>T

2 papers

NM_018003.4

p.Q1340H

c.4020A>C

1 paper

NM_018003.4

p.Y1343F

c.4028A>T

1 paper

NM_018003.4

p.D1357G

c.4070A>G

1 paper

NM_001008224.3

p.A1358_D1359Splc

c.4074+1G>A

1 paper

NM_018003.4

p.Q1313R

c.3938A>G

1 paper

NM_018003.4

p.Q1308H

c.3924A>T

1 paper

NM_018003.4

p.R1292Q

c.3875G>A

1 paper

NM_018003.4

p.R1292*

c.3874C>T