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

2 papers

NM_006178.4

p.F29Y

c.86T>A

Surrounding Variants

1 paper

NM_006178.4

p.D28A

c.83A>C

1 paper

NM_006178.4

p.Q33*

c.97C>T

1 paper

NM_006178.4

p.N25T

c.74A>C

1 paper

NM_006178.4

p.V23A

c.68T>C

1 paper

NM_006178.4

p.N20H

c.58A>C

1 paper

NM_006178.4

p.T19N

c.56C>A

1 paper

NM_006178.4

p.E15A

c.44A>C

1 paper

NM_006178.4

p.D14A

c.41A>C

1 paper

NM_006178.4

p.C11*

c.33T>A

1 paper

NM_006178.4

p.A9T

c.25G>A

1 paper

NM_006178.4

p.A8T

c.22G>A

1 paper

NM_006178.4

p.Q7*

c.19C>T