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.P823S

c.2467C>T

Surrounding Variants

1 paper

NM_000466.3

p.P823L

c.2468C>T

1 paper

NM_000466.3

p.P823H

c.2468C>A

1 paper

NM_000466.3

p.P823delFs

c.2468delG

1 paper

NM_001282677.2

p.P766_A767del2

c.2296_2300del6

1 paper

NM_000466.3

p.R819_G820delFs

c.2457_2458delCG

1 paper

NM_000466.3

p.L822_L826insFs

c.2464_2477dup14

3 papers

NM_000466.3

p.R827*

c.2479C>T

1 paper

NM_000466.3

p.R827P

c.2480G>C

1 paper

NM_000466.3

p.L818P

c.2453T>C

1 paper

NM_000466.3

p.R827delFs

c.2480delC

1 paper

NM_000466.3

p.N830delFs

c.2489delT

1 paper

NM_000466.3

p.Q815delFs

c.2443delG