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

4 papers

NM_015909.4

p.W934*

c.2802G>A

Surrounding Variants

4 papers

NM_015909.4

p.W934*

c.2801G>A

5 papers

NM_015909.4

p.P937A

c.2809C>G

1 paper

NM_015909.4

p.L939_H940insFs

c.2817_2818insT

9 papers

NM_015909.4

p.H940P

c.2819A>C

1 paper

NM_015909.4

p.R941C

c.2821C>T

4 papers

NM_015909.4

p.R941H

c.2822G>A

19 papers

NM_015909.4

p.E943*

c.2827G>T

2 papers

NM_015909.4

p.D925D

c.2775T>C

1 paper

NM_015909.4

p.S946P

c.2836T>C

1 paper

NM_015909.4

p.V949L

c.2845G>T

2 papers

NM_015909.4

p.V949L

c.2845G>C

2 papers

NM_015909.4

p.L953P

c.2858T>C