Varaico: Literature-Extracted Genetic Variants

Gene:RFT1
Variant:p.L128F

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
2 papers
NM_052859.4
p.L128F
c.382C>T
Surrounding Variants
1 paper
NM_052859.4
p.V149M
c.445G>A
13 papers
NM_052859.4
p.K152E
c.454A>G
1 paper
NM_052859.4
p.G101R
c.301G>C
1 paper
NM_052859.4
p.W96G
c.286T>G
1 paper
NM_052859.4
p.V94M
c.280G>A
1 paper
NM_052859.4
p.T89Splc
c.267-1G>C
1 paper
NM_052859.4
p.T89I
c.266C>T
2 papers
NM_052859.4
p.A155E
c.464C>A
1 paper
NM_052859.4
p.E156K
c.466G>A
1 paper
NM_052859.4
p.L179L
c.537G>A
2 papers
NM_052859.4
p.A185T
c.553G>A
1 paper
NM_052859.4
p.T89I
c.266C>T
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