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

14 papers

NM_015909.4

p.L1055P

c.3164T>C

Surrounding Variants

1 paper

NM_015909.4

p.E1056K

c.3166G>A

3 papers

NM_015909.4

p.H1053R

c.3158A>G

9 papers

NM_015909.4

p.R1073C

c.3217C>T

1 paper

NM_015909.4

p.R1073H

c.3218G>A

2 papers

NM_015909.4

p.T1080M

c.3239C>T

1 paper

NM_015909.4

p.R1081delFs

c.3243delC

1 paper

NM_015909.4

p.S1045Splc

c.3134+2T>C

2 papers

NM_015909.4

p.Q1039*

c.3115C>T

1 paper

NM_015909.4

p.D1038H

c.3112G>C

1 paper

NM_015909.4

p.G1024D

c.3071G>A

1 paper

NM_015909.4

p.G1024D

c.3071G>A

5 papers

NM_015909.4

p.Y1023H

c.3067T>C