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.Q76E

c.226C>G

Surrounding Variants

1 paper

NM_006178.4

p.Q76R

c.227A>G

1 paper

NM_006178.4

p.G75delFs

c.223delG

2 papers

NM_006178.4

p.I74N

c.221T>A

1 paper

NM_006178.4

p.I78L

c.232A>T

1 paper

NM_006178.4

p.W69*

c.207G>A

1 paper

NM_006178.4

p.K68E

c.202A>G

1 paper

NM_006178.4

p.Q66_R67Splc

c.199-1G>A

1 paper

NM_006178.4

p.Q66_R67Splc

c.198+1G>A

1 paper

NM_006178.4

p.Q66Q

c.198G>A

1 paper

NM_006178.4

p.Q66L

c.197A>T

1 paper

NM_006178.4

p.P65S

c.193C>T

1 paper

NM_006178.4

p.S59T

c.176G>C