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.S59T

c.176G>C

Surrounding Variants

1 paper

NM_006178.4

p.V55E

c.164T>A

1 paper

NM_006178.4

p.P65S

c.193C>T

1 paper

NM_006178.4

p.Q66L

c.197A>T

1 paper

NM_006178.4

p.Q66Q

c.198G>A

1 paper

NM_006178.4

p.Q66_R67Splc

c.198+1G>A

1 paper

NM_006178.4

p.F47L

c.141T>A

1 paper

NM_006178.4

p.F47L

c.141T>G

1 paper

NM_006178.4

p.S40C

c.119C>G

4 papers

NM_006178.4

p.T39N

c.116C>A

1 paper

NM_006178.4

p.V37L

c.109G>C

1 paper

NM_006178.4

p.H34_F47delFs

c.102_139del38

1 paper

NM_006178.4

p.Q33*

c.97C>T