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.R285H

c.854G>A

Surrounding Variants

1 paper

NM_033064.5

p.S289Splc

c.866+7C>T

1 paper

NM_033064.5

p.R278W

c.832C>T

1 paper

NM_033064.5

p.S274L

c.821C>T

1 paper

NM_033064.5

p.R260Splc

c.780-92T>C

1 paper

NM_033064.5

p.M256V

c.766A>G

1 paper

NM_033064.5

p.Y254H

c.760T>C

1 paper

NM_033064.5

p.G246R

c.736G>A

1 paper

NM_033064.5

p.G246R

c.736G>C

1 paper

NM_033064.5

p.R242W

c.724C>T

1 paper

NM_033064.5

p.R241L

c.722G>T

1 paper

NM_033064.5

p.R241fs

c.721_722fs

1 paper

NM_033064.5

p.L222L

c.664T>C