Varaico: Literature-Extracted Genetic Variants

Gene:RFT1
Variant:p.S16C

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
3 papers
NM_052859.4
p.S16C
c.47C>G
Surrounding Variants
1 paper
NM_052859.4
p.R12insFs
c.36dupG
2 papers
NM_052859.4
p.Q21L
c.62A>T
1 paper
NM_052859.4
p.V6L
c.16G>T
1 paper
NM_052859.4
p.V6L
c.16G>C
1 paper
NM_052859.4
p.E5E
c.15G>A
1 paper
NM_052859.4
p.S3N
c.8G>A
2 papers
NM_052859.4
p.G2D
c.5G>A
3 papers
NM_052859.4
p.R25W
c.73C>T
2 papers
NM_052859.4
p.R37C
c.109C>T
5 papers
NM_052859.4
p.R37L
c.110G>T
3 papers
NM_052859.4
p.I43V
c.127A>G
1 paper
NM_052859.4
p.I43I
c.129C>T
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