Varaico: Literature-Extracted Genetic Variants

Gene:RFT1
Variant:p.Q76H

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.Q76H
c.228G>C
Surrounding Variants
1 paper
NM_052859.4
p.R77*
c.229C>T
1 paper
NM_052859.4
p.D78V
c.233A>T
3 papers
NM_052859.4
p.C70R
c.208T>C
12 papers
NM_052859.4
p.R67C
c.199C>T
1 paper
NM_052859.4
p.T89I
c.266C>T
1 paper
NM_052859.4
p.Y55H
c.163T>C
1 paper
NM_052859.4
p.R50Splc
c.150-8A>G
1 paper
NM_052859.4
p.T89Splc
c.267-1G>C
1 paper
NM_052859.4
p.T89I
c.266C>T
1 paper
NM_052859.4
p.V94M
c.280G>A
1 paper
NM_052859.4
p.W96G
c.286T>G
1 paper
NM_052859.4
p.G101R
c.301G>C
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