Varaico: Literature-Extracted Genetic Variants

ATCAY

66 papers

RefSeq Summary

This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cay...

Pfam Domains

BNIP2aa 59–187UCSCBcl2-/adenovirus E1B nineteen kDa-interacting protein 2

CRAL_TRIO_2aa 188–326UCSCDivergent CRAL/TRIO domain

Gene Aliases

HGNC Name

ATCAY kinesin light chain interacting caytaxin

HGNC Alias Symbol

BNIP-H

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033064.5

p.D120Splc

c.359-1G>C

Surrounding Variants

1 paper

NM_033064.5

p.K128R

c.383A>G

2 papers

NM_033064.5

p.N129N

c.387C>T

1 paper

NM_033064.5

p.D136E

c.408T>A

1 paper

NM_033064.5

p.D136E

c.408T>G

1 paper

NM_033064.5

p.G146S

c.436G>A

1 paper

NM_033064.5

p.R152H

c.455G>A

1 paper

NM_033064.5

p.I171_R172insFs

c.513_514insTT

1 paper

NM_033064.5

p.R172W

c.514C>T

1 paper

NM_033064.5

p.H180H

c.540C>T

1 paper

NM_033064.5

p.G181E

c.542G>A

1 paper

NM_033064.5

p.Y184*

c.552C>A

2 papers

NM_033064.5

p.Y184*

c.552C>G