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.S1194G

c.3580A>G

Surrounding Variants

1 paper

NM_018003.4

p.V1180F

c.3538G>T

1 paper

NM_018003.4

p.A1167S

c.3499G>T

1 paper

NM_018003.4

p.D1225V

c.3674A>T

1 paper

NM_018003.4

p.S1234fs

c.3700_3701fs

1 paper

NM_018003.4

p.S1234delFs

c.3701delC

1 paper

NM_018003.4

p.K1144N

c.3432A>T

1 paper

NM_018003.4

p.K1144K

c.3432A>G

1 paper

NM_018003.4

p.K1144N

c.3432A>C

1 paper

NM_018003.4

p.Q1139Q

c.3417A>G

1 paper

NM_018003.4

p.T1127T

c.3381A>G

1 paper

NM_018003.4

p.H1263L

c.3788A>T

1 paper

NM_018003.4

p.K1267E

c.3799A>G