Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.M1T

PEX10

156 papers

RefSeq Summary

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spec...

Pfam Domains

Pex2_Pex12aa 18–243UCSCPex2 / Pex12 amino terminal region
zf-RING_2aa 271–311UCSCRing finger domain

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 10

HGNC Alias Symbol

RNF69

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_002617.4
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_002617.4
p.M1I
c.3G>T
1 paper
NM_002617.4
p.M1insFs
c.2dupT
2 papers
NM_002617.4
p.M1I
c.3G>A
5 papers
NM_002617.4
p.M1V
c.1A>G
3 papers
NM_002617.4
p.A2fs
c.4_5fs
7 papers
NM_002617.4
p.A2delFs
c.4delC
1 paper
NM_002617.4
p.A2A
c.6C>G
2 papers
NM_002617.4
p.A2fs
c.4_5fs
1 paper
NM_002617.4
p.A5fs
c.13_14fs
1 paper
NM_002617.4
p.A6S
c.16G>T
4 papers
NM_002617.4
p.P9insFs
c.26dupC
1 paper
NM_002617.4
p.P9P
c.27G>A
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