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.P986S

c.2956C>T

Surrounding Variants

1 paper

NM_000466.3

p.R985L

c.2954G>T

1 paper

NM_000466.3

p.R985H

c.2954G>A

1 paper

NM_000466.3

p.D987H

c.2959G>C

2 papers

NM_000466.3

p.R985C

c.2953C>T

1 paper

NM_000466.3

p.S984N

c.2951G>A

1 paper

NM_000466.3

p.L988F

c.2964G>T

1 paper

NM_000466.3

p.L988F

c.2964G>C

1 paper

NM_000466.3

p.T983P

c.2947A>C

29 papers

NM_000466.3

p.I989T

c.2966T>C

NM_001282678.2

p.I781T

c.2342T>C

NM_001282677.2

p.I932T

c.2795T>C

1 paper

NM_000466.3

p.I989N

c.2966T>A

1 paper

NM_000466.3

p.A982G

c.2945C>G

1 paper

NM_000466.3

p.D990G

c.2969A>G