Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.M454T

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
23 papers
NM_001371596.2
p.M454T
c.1361T>C
Surrounding Variants
1 paper
NM_001371596.2
p.G455R
c.1363G>C
1 paper
NM_001371596.2
p.W456*
c.1367G>A
1 paper
NM_001371596.2
p.W456*
c.1368G>A
1 paper
NM_001371596.2
p.V452_L457delFs
c.1354_1369del16
5 papers
NM_001371596.2
p.Q450_G451Splc
c.1351-1G>A
6 papers
NM_001371596.2
p.T458K
c.1373C>A
2 papers
NM_001371596.2
p.Q450_G451Splc
c.1351-2A>G
1 paper
NM_001371596.2
p.S460P
c.1378T>C
1 paper
NM_001371596.2
p.Q450_G451Splc
c.1351-9C>T
1 paper
NM_001371596.2
p.A464insFs
c.1390_1391insA
1 paper
NM_001371596.2
p.A464T
c.1390G>A
7 papers
NM_001371596.2
p.A464V
c.1391C>T
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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."