Varaico: Literature-Extracted Genetic Variants

Gene:ERP29
Variant:p.F216L

ERP29

37 papers

RefSeq Summary

This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif...

Pfam Domains

ERp29_Naa 33–155UCSCERp29, N-terminal domain
ERp29aa 156–251UCSCEndoplasmic reticulum protein ERp29, C-terminal domain

Gene Aliases

HGNC Name

endoplasmic reticulum protein 29

HGNC Previous Symbol

C12orf8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006817.4
p.F216L
c.646T>C
Surrounding Variants
1 paper
NM_006817.4
p.F216L
c.648C>A
1 paper
NM_006817.4
p.F216L
c.648C>G
1 paper
NM_006817.4
p.Q212E
c.634C>G
2 papers
NM_006817.4
p.E220Q
c.658G>C
1 paper
NM_006817.4
p.K208N
c.624G>C
1 paper
NM_006817.4
p.K208E
c.622A>G
1 paper
NM_006817.4
p.Q201E
c.601C>G
1 paper
NM_006817.4
p.E200K
c.598G>A
1 paper
NM_006817.4
p.K237E
c.709A>G
1 paper
NM_006817.4
p.K197del1
c.589_590delAAG
1 paper
NM_006817.4
p.E193D
c.579G>C
1 paper
NM_006817.4
p.E193D
c.579G>T
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