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

1–12 of 1041 variants

143 papers

NM_000466.3

p.G843D

c.2528G>A

68 papers

NM_000466.3

p.F699insFs

c.2097dupT

29 papers

NM_000466.3

p.I989T

c.2966T>C

20 papers

NM_000466.3

p.I700fs

c.2098_2099fs

18 papers

NM_000466.3

p.R872*

c.2614C>T

16 papers

NM_000466.3

p.E972delFs

c.2916delT

15 papers

NM_000466.3

p.I700fs

c.2098_2099fs

10 papers

NM_000466.3

p.G593R

c.1777G>A

10 papers

NM_000466.3

p.S797_R798delFs

c.2391_2392delGA

10 papers

NM_000466.3

p.R949Q

c.2846G>A

10 papers

NM_000466.3

p.L1047P

c.3140T>C

9 papers

NM_000466.3

p.V92L

c.274G>T