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.M248I

c.744G>A

Surrounding Variants

1 paper

NM_006178.4

p.G249Splc

c.745+1G>A

1 paper

NM_006178.4

p.E243A

c.728A>C

2 papers

NM_006178.4

p.S237A

c.709T>G

1 paper

NM_006178.4

p.A234insFs

c.701dupC

5 papers

NM_006178.4

p.R233Q

c.698G>A

1 paper

NM_006178.4

p.R232G

c.694C>G

1 paper

NM_006178.4

p.S228T

c.682T>A

1 paper

NM_006178.4

p.G222R

c.664G>C

1 paper

NM_006178.4

p.G219A

c.656G>C

1 paper

NM_006178.4

p.E216A

c.647A>C

2 papers

NM_006178.4

p.F215L

c.645T>A

1 paper

NM_006178.4

p.D212A

c.635A>C