Varaico: Literature-Extracted Genetic Variants

NBAS

426 papers

RefSeq Summary

This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations...

Pfam Domains

Nbas_Naa 90–371UCSCNeuroblastoma-amplified sequence, N terminal

Sec39aa 726–1058UCSCSecretory pathway protein Sec39

Sec39aa 1012–1375UCSCSecretory pathway protein Sec39

NBAS_11thaa 1996–2120UCSCNBAS subunit of NRZ tethering complex, C-terminal

Gene Aliases

HGNC Name

NBAS subunit of NRZ tethering complex

HGNC Alias Symbol

NAG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_015909.4

p.S230fs

c.688_689fs

Surrounding Variants

2 papers

NM_015909.4

p.H227_S230insFs

c.680_690dup11

1 paper

NM_015909.4

p.F231fs

c.691_692fs

11 papers

NM_015909.4

p.S230fs

c.688_689fs

16 papers

NM_015909.4

p.F229insFs

c.686dupT

1 paper

NM_015909.4

p.C228fs

c.682_683fs

1 paper

NM_015909.4

p.C228insFs

c.682_683insT

1 paper

NM_015909.4

p.S233R

c.697A>C

1 paper

NM_015909.4

p.S233R

c.699T>G

1 paper

NM_015909.4

p.S233R

c.699T>A

8 papers

NM_015909.4

p.H227P

c.680A>C

1 paper

NM_015909.4

p.G238R

c.712G>C

1 paper

NM_015909.4

p.G238R

c.712G>A