Varaico: Literature-Extracted Genetic Variants

PEX1

408 papers

RefSeq Summary

This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane w...

Pfam Domains

PEX-2Naa 17–98UCSCPeroxisome biogenesis factor 1, N-terminal

PEX-1Naa 104–179UCSCPeroxisome biogenesis factor 1, N-terminal

AAAaa 595–734UCSCATPase family associated with various cellular activities (AAA)

AAAaa 877–1007UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 1029–1067UCSCAAA+ lid domain

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 1

HGNC Previous Symbols

ZWS1; ZWS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000466.3

p.V1030D

c.3089T>A

Surrounding Variants

1 paper

NM_000466.3

p.D1031delFs

c.3092delT

1 paper

NM_000466.3

p.L1032insFs

c.3094dupC

7 papers

NM_000466.3

p.L1026P

c.3077T>C

1 paper

NM_000466.3

p.A1036S

c.3106G>T

1 paper

NM_000466.3

p.A1036P

c.3106G>C

1 paper

NM_000466.3

p.L1024insFs

c.3070_3071dupCT

1 paper

NM_000466.3

p.L1024delFs

c.3070_3071delAG

1 paper

NM_000466.3

p.L1024P

c.3071T>C

1 paper

NM_000466.3

p.S1021N

c.3062G>A

1 paper

NM_000466.3

p.T1039I

c.3116C>T

1 paper

NM_000466.3

p.T1039delFs

c.3115delT

1 paper

NM_000466.3

p.S1041S

c.3123C>A