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.D854H

c.2560G>C

Surrounding Variants

1 paper

NM_000466.3

p.D854V

c.2561A>T

1 paper

NM_000466.3

p.D854E

c.2562T>G

1 paper

NM_000466.3

p.D854E

c.2562T>A

1 paper

NM_000466.3

p.L852R

c.2555T>G

1 paper

NM_000466.3

p.L852F

c.2554C>T

1 paper

NM_000466.3

p.I856_Q857insFs

c.2568_2569ins4

1 paper

NM_000466.3

p.Q857*

c.2569C>T

5 papers

NM_000466.3

p.H846_R849Fs

c.2537_2545delinsTCATGGTFs

1 paper

NM_000466.3

p.H846_E847insFs

c.2538_2541dup4

2 papers

NM_000466.3

p.H846fs

c.2536_2537fs

1 paper

NM_000466.3

p.A860_K861delFs

c.2579_2582del4

1 paper

NM_000466.3

p.K861_Y862Splc

c.2583+1G>T