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

9 papers

NM_000466.3

p.V92L

c.274G>T

Surrounding Variants

9 papers

NM_000466.3

p.V92L

c.274G>C

2 papers

NM_000466.3

p.V92G

c.275T>G

1 paper

NM_000466.3

p.Q91_V92Splc

c.274-1G>C

1 paper

NM_000466.3

p.Q91_V92Splc

c.274-2A>G

1 paper

NM_000466.3

p.L94H

c.281T>A

1 paper

NM_000466.3

p.L94_P96del3

c.280_287del9

1 paper

NM_000466.3

p.V100M

c.298G>A

1 paper

NM_000466.3

p.V101delFs

c.301delC

1 paper

NM_000466.3

p.V101fs

c.301_302fs

1 paper

NM_000466.3

p.C103R

c.307T>C

1 paper

NM_000466.3

p.C103S

c.307T>A

1 paper

NM_000466.3

p.C103S

c.308G>C