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

1–12 of 156 variants

26 papers

NM_006178.4

p.E329Q

c.985G>C

5 papers

NM_006178.4

p.Y83F

c.248A>T

5 papers

NM_006178.4

p.R233Q

c.698G>A

4 papers

NM_006178.4

p.T39N

c.116C>A

3 papers

NM_006178.4

p.I209N

c.626T>A

2 papers

NM_006178.4

p.F29Y

c.86T>A

2 papers

NM_006178.4

p.I74N

c.221T>A

2 papers

NM_006178.4

p.E153D

c.459A>T

2 papers

NM_006178.4

p.P211A

c.631C>G

2 papers

NM_006178.4

p.F215L

c.645T>A

2 papers

NM_006178.4

p.S237A

c.709T>G

2 papers

NM_006178.4

p.A459T

c.1375G>A