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.V314Fs

c.941_942delinsCAGTFs

Surrounding Variants

1 paper

NM_033064.5

p.V314I

c.940G>A

1 paper

NM_033064.5

p.V314fs

c.940_941fs

4 papers

NM_033064.5

p.Q322Splc

c.965+3G>T

6 papers

NM_033064.5

p.S301R

c.903C>A

6 papers

NM_033064.5

p.S301R

c.903C>G

6 papers

NM_033064.5

p.S301R

c.901A>C

1 paper

NM_033064.5

p.V299M

c.895G>A

4 papers

NM_033064.5

p.K295delFs

c.883_884delAA

1 paper

NM_033064.5

p.K291R

c.872A>G

1 paper

NM_033064.5

p.S289Splc

c.866+7C>T

1 paper

NM_033064.5

p.R285H

c.854G>A

1 paper

NM_033064.5

p.R278W

c.832C>T