Varaico: Literature-Extracted Genetic Variants

NSF

17q21.31 (UCSC)OMIM PanelApp GTEx

315 papers

Pfam Domains

CDC48_Naa 5–85UCSCCell division protein 48 (CDC48), N-terminal domain

CDC48_2aa 111–172UCSCCell division protein 48 (CDC48), domain 2

AAAaa 256–397UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 423–468UCSCAAA+ lid domain

AAAaa 539–669UCSCATPase family associated with various cellular activities (AAA)

NSF_ATPase_lidaa 669–736UCSCNSF, AAA+ ATPase lid domain

Gene Aliases

HGNC Name

N-ethylmaleimide sensitive factor, vesicle fusing ATPase

HGNC Alias Symbols

SKD2; SEC18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006178.4

p.V149L

c.445G>C

Surrounding Variants

1 paper

NM_006178.4

p.V149L

c.445G>T

1 paper

NM_006178.4

p.L148P

c.443T>C

1 paper

NM_006178.4

p.E153K

c.457G>A

2 papers

NM_006178.4

p.E153D

c.459A>T

1 paper

NM_006178.4

p.A154T

c.460G>A

1 paper

NM_006178.4

p.A154V

c.461C>T

1 paper

NM_006178.4

p.K143E

c.427A>G

1 paper

NM_006178.4

p.N141H

c.421A>C

1 paper

NM_006178.4

p.P157H

c.470C>A

1 paper

NM_006178.4

p.F138Y

c.413T>A

1 paper

NM_006178.4

p.Q135_L136Splc

c.406-1G>A

1 paper

NM_006178.4

p.E163insFs

c.487dupG