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.M417L

c.1249A>T

Surrounding Variants

1 paper

NM_018003.4

p.H416R

c.1247A>G

1 paper

NM_018003.4

p.I413I

c.1239A>T

1 paper

NM_018003.4

p.T434M

c.1301C>T

1 paper

NM_018003.4

p.E438E

c.1314A>G

1 paper

NM_018003.4

p.K443M

c.1328A>T

1 paper

NM_018003.4

p.K443N

c.1329G>T

1 paper

NM_018003.4

p.K443N

c.1329G>C

1 paper

NM_018003.4

p.K444R

c.1331A>G

1 paper

NM_018003.4

p.L446delFs

c.1338delT

1 paper

NM_018003.4

p.A448A

c.1344A>G

1 paper

NM_018003.4

p.D459G

c.1376A>G

1 paper

NM_018003.4

p.L461delFs

c.1381_1382delAG