Varaico: Literature-Extracted Genetic Variants

PEX6

292 papers

RefSeq Summary

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxiso...

Pfam Domains

PEX6_vert_Naa 1–100UCSCPEX6 N-terminal domain

DPBB_PEX6aa 190–296UCSCPEX6 double psi barrel domain

AAAaa 466–595UCSCATPase family associated with various cellular activities (AAA)

AAAaa 740–872UCSCATPase family associated with various cellular activities (AAA)

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 6

HGNC Alias Symbols

PXAAA1; PAF-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000287.4

p.A56P

c.166G>C

Surrounding Variants

9 papers

NM_000287.4

p.L57P

c.170T>C

1 paper

NM_000287.4

p.L53_V54ins1

c.159_160insTAA

1 paper

NM_000287.4

p.L53Q

c.158T>A

1 paper

NM_000287.4

p.E45_G49ins1

c.133_147dup15

1 paper

NM_000287.4

p.E66insFs

c.197dupA

1 paper

NM_000287.4

p.E45*

c.133G>T

1 paper

NM_000287.4

p.Q67fs

c.199_200fs

1 paper

NM_000287.4

p.A43P

c.127G>C

1 paper

NM_000287.4

p.P69P

c.207C>T

2 papers

NM_000287.4

p.G70G

c.210G>A

1 paper

NM_000287.4

p.A39_L40del0

c.115_120del6

2 papers

NM_000287.4

p.L75insFs

c.224dupT