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

2 papers

NM_033064.5

p.D102E

c.306T>G

Surrounding Variants

2 papers

NM_033064.5

p.D102E

c.306T>A

1 paper

NM_033064.5

p.T104S

c.311C>G

1 paper

NM_033064.5

p.D105N

c.313G>A

1 paper

NM_033064.5

p.D105E

c.315C>A

1 paper

NM_033064.5

p.D105E

c.315C>G

1 paper

NM_033064.5

p.S106L

c.317C>T

1 paper

NM_033064.5

p.I98V

c.292A>G

1 paper

NM_033064.5

p.D92E

c.276T>A

1 paper

NM_033064.5

p.D92E

c.276T>G

1 paper

NM_033064.5

p.G113D

c.338G>A

1 paper

NM_033064.5

p.E115*

c.343G>T

1 paper

NM_033064.5

p.D86E

c.258T>A