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

1 paper

NM_015909.4

p.C144S

c.431G>C

Surrounding Variants

1 paper

NM_015909.4

p.C144*

c.432T>A

1 paper

NM_015909.4

p.C144S

c.430T>A

5 papers

NM_015909.4

p.Y142*

c.426C>G

5 papers

NM_015909.4

p.Y142*

c.426C>A

1 paper

NM_015909.4

p.A150S

c.448G>T

1 paper

NM_015909.4

p.A150T

c.448G>A

1 paper

NM_015909.4

p.Y149_A150delFs

c.445_448del4

2 papers

NM_015909.4

p.E151K

c.451G>A

11 papers

NM_015909.4

p.R137W

c.409C>T

3 papers

NM_015909.4

p.R136G

c.406A>G

5 papers

NM_015909.4

p.W135*

c.405G>A

4 papers

NM_015909.4

p.W135*

c.404G>A