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

5 papers

NM_015909.4

p.Y1023H

c.3067T>C

Surrounding Variants

1 paper

NM_015909.4

p.G1024D

c.3071G>A

4 papers

NM_015909.4

p.C1009S

c.3026G>C

3 papers

NM_015909.4

p.C1009S

c.3025T>A

1 paper

NM_015909.4

p.N1005_D1006ins7

c.3013_3017ins21

3 papers

NM_015909.4

p.R1004Q

c.3011G>A

13 papers

NM_015909.4

p.R1004*

c.3010C>T

1 paper

NM_015909.4

p.E997A

c.2990A>C

1 paper

NM_015909.4

p.E997Q

c.2989G>C

1 paper

NM_015909.4

p.M992del1

c.2974_2975delCAT

12 papers

NM_015909.4

p.I984S

c.2951T>G

7 papers

NM_015909.4

p.I984delFs

c.2950delT

8 papers

NM_015909.4

p.I984fs

c.2950_2951fs