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.R995G

c.2983A>G

Surrounding Variants

1 paper

NM_000466.3

p.L994R

c.2981T>G

1 paper

NM_000466.3

p.L994P

c.2981T>C

1 paper

NM_000466.3

p.L994F

c.2980C>T

1 paper

NM_000466.3

p.L994V

c.2980C>G

1 paper

NM_000466.3

p.G997R

c.2989G>C

1 paper

NM_000466.3

p.G997S

c.2989G>A

1 paper

NM_000466.3

p.R995_P996del2

c.2983_2987del6

1 paper

NM_000466.3

p.A992V

c.2975C>T

1 paper

NM_000466.3

p.I989_P991del3

c.2965_2972del9

6 papers

NM_000466.3

p.R998*

c.2992C>T

1 paper

NM_000466.3

p.R998G

c.2992C>G

1 paper

NM_000466.3

p.P991delFs

c.2972delG