Varaico: Literature-Extracted Genetic Variants

Gene:PEX16
Variant:p.R227W

PEX16

84 papers

RefSeq Summary

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the compleme...

Pfam Domains

Pex16aa 9–329UCSCPeroxisomal membrane protein (Pex16)

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004813.4
p.R227W
c.679C>T
Surrounding Variants
2 papers
NM_004813.4
p.P228L
c.683C>T
1 paper
NM_004813.4
p.L229P
c.686T>C
1 paper
NM_004813.4
p.L223L
c.669G>A
1 paper
NM_004813.4
p.H231R
c.692A>G
3 papers
NM_004813.4
p.A220T
c.658G>A
1 paper
NM_004813.4
p.L215P
c.644T>C
1 paper
NM_004813.4
p.L213fs
c.637_638fs
1 paper
NM_004813.4
p.L213delFs
c.637delG
1 paper
NM_004813.4
p.P212R
c.635C>G
1 paper
NM_004813.4
p.E205*
c.613G>T
1 paper
NM_004813.4
p.Q199R
c.596A>G
1 paper
NM_004813.4
p.H185Y
c.553C>T
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