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.S1234fs

c.3700_3701fs

Surrounding Variants

1 paper

NM_018003.4

p.S1234delFs

c.3701delC

1 paper

NM_018003.4

p.D1225V

c.3674A>T

1 paper

NM_018003.4

p.H1263L

c.3788A>T

1 paper

NM_018003.4

p.K1267E

c.3799A>G

1 paper

NM_018003.4

p.K1272K

c.3816A>G

1 paper

NM_018003.4

p.S1194G

c.3580A>G

1 paper

NM_018003.4

p.Q1284K

c.3850C>A

1 paper

NM_018003.4

p.Q1284R

c.3851A>G

1 paper

NM_018003.4

p.V1180F

c.3538G>T

1 paper

NM_018003.4

p.Q1289R

c.3866A>G

1 paper

NM_018003.4

p.R1292*

c.3874C>T

1 paper

NM_018003.4

p.R1292Q

c.3875G>A