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.S898delFs

c.2692_2693delCT

Surrounding Variants

2 papers

NM_000466.3

p.R896*

c.2686C>T

3 papers

NM_000466.3

p.A895_R896ins4

c.2683_2687ins12

1 paper

NM_000466.3

p.F902insFs

c.2706dupT

2 papers

NM_000466.3

p.I903K

c.2708T>A

1 paper

NM_000466.3

p.I903fs

c.2707_2708fs

2 papers

NM_000466.3

p.I903_S904delFs

c.2709_2710delTT

2 papers

NM_000466.3

p.G892E

c.2675G>A

1 paper

NM_000466.3

p.L890insFs

c.2670dupA

1 paper

NM_000466.3

p.K906K

c.2718G>A

1 paper

NM_000466.3

p.L890P

c.2669T>C

1 paper

NM_000466.3

p.K906_G907Splc

c.2718+2T>A

1 paper

NM_000466.3

p.K887E

c.2659A>G