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

10 papers

NM_000466.3

p.L1047P

c.3140T>C

Surrounding Variants

1 paper

NM_000466.3

p.L1047R

c.3140T>G

1 paper

NM_000466.3

p.L1047Q

c.3140T>A

1 paper

NM_000466.3

p.T1043_D1046del4

c.3127_3137del12

1 paper

NM_000466.3

p.D1046Y

c.3136G>T

1 paper

NM_000466.3

p.D1046H

c.3136G>C

1 paper

NM_000466.3

p.A1049V

c.3146C>T

1 paper

NM_000466.3

p.A1049G

c.3146C>G

1 paper

NM_000466.3

p.A1045G

c.3134C>G

1 paper

NM_000466.3

p.A1049delFs

c.3145delC

1 paper

NM_000466.3

p.G1044R

c.3130G>C

1 paper

NM_000466.3

p.G1044R

c.3130G>A

2 papers

NM_000466.3

p.T1043I

c.3128C>T