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.T1918P

c.5752A>C

Surrounding Variants

6 papers

NM_015909.4

p.A1921P

c.5761G>C

40 papers

NM_015909.4

p.R1914H

c.5741G>A

5 papers

NM_015909.4

p.R1914C

c.5740C>T

4 papers

NM_015909.4

p.R1914G

c.5740C>G

1 paper

NM_015909.4

p.V1925I

c.5773G>A

1 paper

NM_015909.4

p.L1909L

c.5727G>C

1 paper

NM_015909.4

p.K1908_L1909Splc

c.5725-8T>C

1 paper

NM_015909.4

p.A1944T

c.5830G>A

1 paper

NM_015909.4

p.D1953E

c.5859T>G

1 paper

NM_015909.4

p.D1953E

c.5859T>A

1 paper

NM_015909.4

p.L1955M

c.5863T>A

2 papers

NM_015909.4

p.L1955S

c.5864T>C