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.F866L

c.2598T>A

Surrounding Variants

1 paper

NM_000466.3

p.F866L

c.2598T>G

1 paper

NM_000466.3

p.F866L

c.2596T>C

18 papers

NM_000466.3

p.R872*

c.2614C>T

2 papers

NM_000466.3

p.K861_Y862Splc

c.2584-2A>G

1 paper

NM_000466.3

p.Q873*

c.2617C>T

1 paper

NM_000466.3

p.G876R

c.2626G>C

1 paper

NM_000466.3

p.G876R

c.2626G>A

2 papers

NM_000466.3

p.L878P

c.2633T>C

5 papers

NM_000466.3

p.L879S

c.2636T>C

1 paper

NM_000466.3

p.Y880C

c.2639A>G

2 papers

NM_000466.3

p.L878_L879del1

c.2633_2635delACA

1 paper

NM_000466.3

p.G881S

c.2641G>A