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.T373A

c.1117A>G

Surrounding Variants

1 paper

NM_006178.4

p.N374D

c.1120A>G

1 paper

NM_006178.4

p.D377Y

c.1129G>T

1 paper

NM_006178.4

p.L383H

c.1148T>A

1 paper

NM_006178.4

p.K401E

c.1201A>G

1 paper

NM_006178.4

p.L404V

c.1210C>G

1 paper

NM_006178.4

p.R413insFs

c.1238_1239insA

1 paper

NM_006178.4

p.A430A

c.1290C>A

1 paper

NM_006178.4

p.V431M

c.1291G>A

1 paper

NM_006178.4

p.T433I

c.1298C>T

1 paper

NM_006178.4

p.A439T

c.1315G>A

1 paper

NM_006178.4

p.A439V

c.1316C>T

1 paper

NM_006178.4

p.E440A

c.1319A>C