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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_033064.5

p.M10T

c.29T>C

1 paper

NM_033064.5

p.E11G

c.32A>G

1 paper

NM_033064.5

p.D23_L24delFs

c.68_71del4

1 paper

NM_033064.5

p.P25insFs

c.73dupC