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

1–12 of 381 variants

2 papers

NM_018003.4

p.M403V

c.1207A>G

2 papers

NM_018003.4

p.Q1116*

c.3346C>T

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.M1Fs

c.2delinsAAAFs

1 paper

NM_018003.4

p.K2T

c.5A>C

1 paper

NM_018003.4

p.S3G

c.7A>G

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