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.F74S

c.221T>C

Surrounding Variants

1 paper

NM_015909.4

p.F74L

c.220T>C

1 paper

NM_015909.4

p.P77H

c.230C>A

2 papers

NM_015909.4

p.G79E

c.236G>A

1 paper

NM_015909.4

p.G79_R82delFs

c.236_246del11

1 paper

NM_015909.4

p.V84G

c.251T>G

1 paper

NM_015909.4

p.V84delFs

c.252delA

1 paper

NM_015909.4

p.I88L

c.262A>T

1 paper

NM_015909.4

p.W90*

c.270G>A

11 papers

NM_015909.4

p.A95V

c.284C>T

1 paper

NM_015909.4

p.S96Splc

c.287+1G>T

1 paper

NM_015909.4

p.N97S

c.290A>G

1 paper

NM_015909.4

p.N97K

c.291T>G