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.P1008S

c.3022C>T

Surrounding Variants

4 papers

NM_000466.3

p.P1008del1

c.3022_3024delAGG

2 papers

NM_000466.3

p.Q1010H

c.3030G>T

1 paper

NM_000466.3

p.Q1010H

c.3030G>C

1 paper

NM_000466.3

p.C1005S

c.3014G>C

1 paper

NM_000466.3

p.C1005R

c.3013T>C

1 paper

NM_000466.3

p.C1005S

c.3013T>A

1 paper

NM_000466.3

p.C1002Y

c.3005G>A

1 paper

NM_000466.3

p.R998L

c.2993G>T

1 paper

NM_000466.3

p.R998P

c.2993G>C

6 papers

NM_000466.3

p.R998Q

c.2993G>A

6 papers

NM_000466.3

p.R998*

c.2992C>T

1 paper

NM_000466.3

p.R998G

c.2992C>G