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.E1057_A1058insCC

c.3169_3173ins6

Surrounding Variants

1 paper

NM_000466.3

p.L1056W

c.3167T>G

1 paper

NM_000466.3

p.L1056S

c.3167T>C

1 paper

NM_000466.3

p.Q1055L

c.3164A>T

1 paper

NM_000466.3

p.A1054V

c.3161C>T

1 paper

NM_000466.3

p.A1054D

c.3161C>A

1 paper

NM_000466.3

p.Y1052_N1053del2

c.3154_3158del6

1 paper

NM_000466.3

p.N1053insFs

c.3158dupA

5 papers

NM_000466.3

p.H1060_G1061insFs

c.3180_3181insT

1 paper

NM_000466.3

p.N1053D

c.3157A>G

2 papers

NM_000466.3

p.L1051_Y1052delFs

c.3152_3156del5

1 paper

NM_000466.3

p.A1049V

c.3146C>T

1 paper

NM_000466.3

p.A1049G

c.3146C>G