Varaico: Literature-Extracted Genetic Variants

Gene:RFT1
Variant:p.T444M

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.T444M
c.1331C>T
Surrounding Variants
7 papers
NM_052859.4
p.R442Q
c.1325G>A
3 papers
NM_052859.4
p.V429M
c.1285G>A
1 paper
NM_052859.4
p.S428S
c.1284C>T
1 paper
NM_052859.4
p.S428N
c.1283G>A
1 paper
NM_052859.4
p.A463G
c.1388C>G
1 paper
NM_052859.4
p.L467R
c.1400T>G
1 paper
NM_052859.4
p.S413P
c.1237T>C
1 paper
NM_052859.4
p.M408R
c.1223T>G
6 papers
NM_052859.4
p.M408V
c.1222A>G
1 paper
NM_052859.4
p.Y404H
c.1210T>C
1 paper
NM_052859.4
p.R403S
c.1209G>T
2 papers
NM_052859.4
p.R403S
c.1209G>C
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