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.S569A

c.1705T>G

Surrounding Variants

2 papers

NM_006178.4

p.P563L

c.1688C>T

1 paper

NM_006178.4

p.G575S

c.1723G>A

1 paper

NM_006178.4

p.G575A

c.1724G>C

1 paper

NM_006178.4

p.F576delFs

c.1727delT

1 paper

NM_006178.4

p.S577A

c.1729T>G

2 papers

NM_006178.4

p.E578Q

c.1732G>C

1 paper

NM_006178.4

p.E559Q

c.1675G>C

1 paper

NM_006178.4

p.A551T

c.1651G>A

1 paper

NM_006178.4

p.V537V

c.1611C>G

1 paper

NM_006178.4

p.S531T

c.1592G>C

1 paper

NM_006178.4

p.I507delFs

c.1520delT

1 paper

NM_006178.4

p.I503_M504insFs

c.1509_1510insG