Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.R233S

MFSD8

290 papers

RefSeq Summary

This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transpo...

Pfam Domains

MFS_1aa 42–157UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

major facilitator superfamily domain containing 8

HGNC Previous Symbol

CLN7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371596.2
p.R233S
c.699A>C
Surrounding Variants
1 paper
NM_001371596.2
p.R233S
c.699A>T
1 paper
NM_001371596.2
p.R233Splc
c.699-1G>A
7 papers
NM_001371596.2
p.R233G
c.697A>G
2 papers
NM_001371596.2
p.R236C
c.706C>T
2 papers
NM_001371596.2
p.R236H
c.707G>A
1 paper
NM_001371596.2
p.R236R
c.708T>A
1 paper
NM_001371596.2
p.S240*
c.719C>G
1 paper
NM_001371596.2
p.S240*
c.719C>A
4 papers
NM_001371596.2
p.G241*
c.721G>T
1 paper
NM_001371596.2
p.Q243L
c.728A>T
1 paper
NM_001371596.2
p.C244*
c.732T>A
1 paper
NM_001371596.2
p.K245*
c.733A>T
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."