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

1–12 of 67 variants

6 papers

NM_033064.5

p.S301R

c.901A>C

6 papers

NM_033064.5

p.S301R

c.903C>A

6 papers

NM_033064.5

p.S301R

c.903C>G

4 papers

NM_033064.5

p.D201_S203delFs

c.602_608del7

4 papers

NM_033064.5

p.K295delFs

c.883_884delAA

4 papers

NM_033064.5

p.Q322Splc

c.965+3G>T

2 papers

NM_033064.5

p.D102E

c.306T>A

2 papers

NM_033064.5

p.D102E

c.306T>G

2 papers

NM_033064.5

p.N129N

c.387C>T

2 papers

NM_033064.5

p.Y184*

c.552C>G

1 paper

NM_033064.5

p.M1T

c.2T>C

1 paper

NM_033064.5

p.M10T

c.29T>C