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.K2T

c.5A>C

Surrounding Variants

1 paper

NM_018003.4

p.S3G

c.7A>G

1 paper

NM_018003.4

p.M1Fs

c.2delinsAAAFs

1 paper

NM_018003.4

p.K5M

c.14A>T

1 paper

NM_018003.4

p.R9S

c.27G>T

1 paper

NM_018003.4

p.R9S

c.27G>C

1 paper

NM_018003.4

p.Q11L

c.32A>T

1 paper

NM_018003.4

p.P14R

c.41C>G

1 paper

NM_018003.4

p.P14H

c.41C>A

1 paper

NM_018003.4

p.G15R

c.43G>C

1 paper

NM_018003.4

p.G15S

c.43G>A

1 paper

NM_018003.4

p.S19Y

c.56C>A

1 paper

NM_018003.4

p.G20S

c.58G>A