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

1 paper

NM_015909.4

p.H1136L

c.3407A>T

Surrounding Variants

1 paper

NM_015909.4

p.H1136Q

c.3408C>G

1 paper

NM_015909.4

p.H1136Q

c.3408C>A

1 paper

NM_015909.4

p.A1138S

c.3412G>T

1 paper

NM_015909.4

p.M1141V

c.3421A>G

1 paper

NM_015909.4

p.M1141R

c.3422T>G

3 papers

NM_015909.4

p.R1131H

c.3392G>A

5 papers

NM_015909.4

p.S1129F

c.3386C>T

1 paper

NM_015909.4

p.H1143Q

c.3429C>G

2 papers

NM_015909.4

p.A1146fs

c.3436_3437fs

2 papers

NM_015909.4

p.C1144_S1145insFs

c.3432_3435dup4

1 paper

NM_015909.4

p.A1146insFs

c.3436_3437ins5

8 papers

NM_015909.4

p.I1121M

c.3363A>G