Varaico: Literature-Extracted Genetic Variants

Gene:RFT1
Variant:p.R261G

RFT1

82 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway ...

Pfam Domains

Rft-1aa 9–530UCSCRft protein

Gene Aliases

HGNC Name

RFT1 glycolipid translocator homolog

HGNC Alias Symbols

CDG1N; SLC76A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052859.4
p.R261G
c.781C>G
Surrounding Variants
2 papers
NM_052859.4
p.E260A
c.779A>C
1 paper
NM_052859.4
p.Y262C
c.785A>G
1 paper
NM_052859.4
p.G276Splc
c.826+7T>C
3 papers
NM_052859.4
p.G276D
c.827G>A
6 papers
NM_052859.4
p.I296R
c.887T>G
7 papers
NM_052859.4
p.I296K
c.887T>A
8 papers
NM_052859.4
p.E298K
c.892G>A
4 papers
NM_052859.4
p.Y301C
c.902A>G
1 paper
NM_052859.4
p.F304S
c.911T>C
1 paper
NM_052859.4
p.K312R
c.935A>G
1 paper
NM_052859.4
p.K318T
c.953A>C
3 papers
NM_052859.4
p.G340S
c.1018G>A
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