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.Q799_S800del2

c.2395_2399del6

Surrounding Variants

1 paper

NM_000466.3

p.S800fs

c.2398_2399fs

1 paper

NM_000466.3

p.Q799insFs

c.2396dupA

1 paper

NM_000466.3

p.Q799*

c.2395C>T

1 paper

NM_001282677.2

p.R741H

c.2222G>A

10 papers

NM_000466.3

p.S797_R798delFs

c.2391_2392delGA

2 papers

NM_000466.3

p.R798fs

c.2392_2393fs

7 papers

NM_000466.3

p.R798G

c.2392C>G

5 papers

NM_000466.3

p.L796P

c.2387T>C

5 papers

NM_000466.3

p.K806Splc

c.2416+1G>T

1 paper

NM_000466.3

p.R795fs

c.2383_2384fs

9 papers

NM_000466.3

p.R795*

c.2383C>T

1 paper

NM_000466.3

p.A791_I792del2

c.2371_2375del6