Varaico: Literature-Extracted Genetic Variants

MVP

135 papers

RefSeq Summary

This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a r...

Pfam Domains

Vault_2aa 50–109UCSCMajor Vault Protein repeat domain

Vaultaa 113–154UCSCMajor Vault Protein repeat domain

Vaultaa 166–207UCSCMajor Vault Protein repeat domain

Vaultaa 219–262UCSCMajor Vault Protein repeat domain

Vault_2aa 273–320UCSCMajor Vault Protein repeat domain

Vaultaa 324–368UCSCMajor Vault Protein repeat domain

Gene Aliases

HGNC Name

major vault protein

HGNC Alias Symbol

VAULT1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 107 variants

2 papers

NM_005115.5

p.R84C

c.250C>T

2 papers

NM_005115.5

p.F209S

c.626T>C

2 papers

NM_005115.5

p.P312T

c.934C>A

2 papers

NM_005115.5

p.Y389S

c.1166A>C

1 paper

NM_005115.5

p.M1I

c.3G>A

1 paper

NM_005115.5

p.A2insFs

c.5_6ins4

1 paper

NM_005115.5

p.A2V

c.5C>T

1 paper

NM_005115.5

p.E5*

c.13G>T

1 paper

NM_005115.5

p.R9H

c.26G>A

1 paper

NM_005115.5

p.Y13insFs

c.38_39insG

1 paper

NM_005115.5

p.Q21_V25delFs

c.63_73del11

1 paper

NM_005115.5

p.S26C

c.77C>G