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

1–12 of 674 variants

40 papers

NM_015909.4

p.R1914H

c.5741G>A

19 papers

NM_015909.4

p.E943*

c.2827G>T

16 papers

NM_015909.4

p.F229insFs

c.686dupT

16 papers

NM_015909.4

p.C1199Y

c.3596G>A

14 papers

NM_015909.4

p.L903R

c.2708T>G

14 papers

NM_015909.4

p.L1055P

c.3164T>C

13 papers

NM_015909.4

p.R1004*

c.3010C>T

12 papers

NM_015909.4

p.I984S

c.2951T>G

11 papers

NM_015909.4

p.A95V

c.284C>T

11 papers

NM_015909.4

p.R137W

c.409C>T

11 papers

NM_015909.4

p.S230fs

c.688_689fs

11 papers

NM_015909.4

p.I243V

c.727A>G