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

3 papers

NM_000466.3

p.G973fs

c.2917_2918fs

Surrounding Variants

1 paper

NM_000466.3

p.E972insFs

c.2915_2916dupAA

16 papers

NM_000466.3

p.E972delFs

c.2916delT

7 papers

NM_000466.3

p.G973fs

c.2917_2918fs

1 paper

NM_000466.3

p.V971E

c.2912T>A

1 paper

NM_000466.3

p.D969_G970delFs

c.2907_2910del4

1 paper

NM_000466.3

p.L974delFs

c.2922delT

1 paper

NM_000466.3

p.G970A

c.2909G>C

1 paper

NM_000466.3

p.G970E

c.2909G>A

1 paper

NM_000466.3

p.G970R

c.2908G>C

1 paper

NM_000466.3

p.G970R

c.2908G>A

5 papers

NM_000466.3

p.G976Splc

c.2926+1G>A

7 papers

NM_000466.3

p.G976Splc

c.2926+2T>C