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

5 papers

NM_006178.4

p.Y83F

c.248A>T

Surrounding Variants

1 paper

NM_006178.4

p.V80Splc

c.239-2A>G

1 paper

NM_006178.4

p.Q90*

c.268C>T

1 paper

NM_006178.4

p.C91S

c.271T>A

1 paper

NM_006178.4

p.C91S

c.272G>C

1 paper

NM_006178.4

p.I92L

c.274A>C

1 paper

NM_006178.4

p.D100N

c.298G>A

1 paper

NM_006178.4

p.D100E

c.300T>A

1 paper

NM_006178.4

p.K104E

c.310A>G

1 paper

NM_006178.4

p.K105E

c.313A>G

1 paper

NM_006178.4

p.N110D

c.328A>G

1 paper

NM_006178.4

p.Q123H

c.369G>T

1 paper

NM_006178.4

p.Q124insFs

c.370_371insTG