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.P947S

c.2839C>T

Surrounding Variants

1 paper

NM_000466.3

p.P947T

c.2839C>A

1 paper

NM_000466.3

p.P947L

c.2840C>T

1 paper

NM_000466.3

p.A946V

c.2837C>T

1 paper

NM_000466.3

p.A946insFs

c.2836dupG

1 paper

NM_000466.3

p.A946T

c.2836G>A

1 paper

NM_000466.3

p.R948G

c.2842C>G

1 paper

NM_000466.3

p.I945_P947delFs

c.2835_2841del7

2 papers

NM_000466.3

p.R948Q

c.2843G>A

8 papers

NM_000466.3

p.R949W

c.2845C>T

10 papers

NM_001282678.2

p.R741Q

c.2222G>A

NM_000466.3

p.R949Q

c.2846G>A

NM_001282677.2

p.R892Q

c.2675G>A

1 paper

NM_000466.3

p.G950R

c.2848G>C

1 paper

NM_000466.3

p.G950V

c.2849G>T