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.L903R

c.2708T>G

Surrounding Variants

1 paper

NM_015909.4

p.L903M

c.2707C>A

1 paper

NM_015909.4

p.Q907*

c.2719C>T

1 paper

NM_015909.4

p.D911D

c.2733C>T

5 papers

NM_015909.4

p.V892F

c.2674G>T

2 papers

NM_015909.4

p.R916*

c.2746A>T

1 paper

NM_015909.4

p.T890A

c.2668A>G

1 paper

NM_015909.4

p.G877V

c.2630G>T

4 papers

NM_015909.4

p.R873W

c.2617C>T

1 paper

NM_015909.4

p.R868*

c.2602C>T

2 papers

NM_015909.4

p.D925D

c.2775T>C

4 papers

NM_015909.4

p.W934*

c.2801G>A

4 papers

NM_015909.4

p.W934*

c.2802G>A