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.G593R

c.1777G>A

Surrounding Variants

8 papers

NM_000466.3

p.G593R

c.1777G>C

1 paper

NM_000466.3

p.R591S

c.1773G>T

3 papers

NM_000466.3

p.L590R

c.1769T>G

1 paper

NM_000466.3

p.L590P

c.1769T>C

1 paper

NM_000466.3

p.L597P

c.1790T>C

1 paper

NM_000466.3

p.L597H

c.1790T>A

5 papers

NM_000466.3

p.T598delFs

c.1792delT

1 paper

NM_000466.3

p.G599*

c.1795G>T

1 paper

NM_000466.3

p.L586delFs

c.1757_1758delAA

2 papers

NM_000466.3

p.G599E

c.1796G>A

1 paper

NM_000466.3

p.K601_G602Splc

c.1803+1G>A

6 papers

NM_000466.3

p.R581P

c.1742G>C