Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.V346I

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.V346I
c.1036G>A
Surrounding Variants
1 paper
NM_001371596.2
p.V346L
c.1036G>C
2 papers
NM_001371596.2
p.V346delFs
c.1036delC
1 paper
NM_001371596.2
p.G343A
c.1028G>C
1 paper
NM_001371596.2
p.G343E
c.1028G>A
1 paper
NM_001371596.2
p.L341P
c.1022T>C
1 paper
NM_001371596.2
p.I353V
c.1057A>G
1 paper
NM_001371596.2
p.R337H
c.1010G>A
5 papers
NM_001371596.2
p.R337C
c.1009C>T
29 papers
NM_001371596.2
p.E336Q
c.1006G>C
5 papers
NM_001371596.2
p.E336K
c.1006G>A
4 papers
NM_001371596.2
p.P356S
c.1066C>T
1 paper
NM_001371596.2
p.G335G
c.1005C>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."