Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.W78*

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
6 papers
NM_001371596.2
p.W78*
c.233G>A
Surrounding Variants
4 papers
NM_001371596.2
p.W78*
c.234G>A
1 paper
NM_001371596.2
p.G77delFs
c.229_230delCC
1 paper
NM_001371596.2
p.G77R
c.229G>C
1 paper
NM_001371596.2
p.I80F
c.238A>T
3 papers
NM_001371596.2
p.T73insFs
c.217dupA
2 papers
NM_001371596.2
p.T73fs
c.217_218fs
2 papers
NM_001371596.2
p.D72Y
c.214G>T
3 papers
NM_001371596.2
p.G86S
c.256G>A
1 paper
NM_001371596.2
p.T70I
c.209C>T
1 paper
NM_001371596.2
p.G86G
c.258C>A
4 papers
NM_001371596.2
p.Q87*
c.259C>T
3 papers
NM_001371596.2
p.P69L
c.206C>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."