Varaico: Literature-Extracted Genetic Variants

Gene:RFT1

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
1–12 of 83 variants
13 papers
NM_052859.4
p.K152E
c.454A>G
12 papers
NM_052859.4
p.R67C
c.199C>T
8 papers
NM_052859.4
p.E298K
c.892G>A
7 papers
NM_052859.4
p.I296K
c.887T>A
7 papers
NM_052859.4
p.R442Q
c.1325G>A
6 papers
NM_052859.4
p.I296R
c.887T>G
6 papers
NM_052859.4
p.M408V
c.1222A>G
5 papers
NM_052859.4
p.R37L
c.110G>T
4 papers
NM_052859.4
p.Y301C
c.902A>G
3 papers
NM_052859.4
p.S16C
c.47C>G
3 papers
NM_052859.4
p.R25W
c.73C>T
3 papers
NM_052859.4
p.I43V
c.127A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."