Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.E336Q

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
29 papers
NM_001371596.2
p.E336Q
c.1006G>C
Surrounding Variants
5 papers
NM_001371596.2
p.E336K
c.1006G>A
1 paper
NM_001371596.2
p.G335G
c.1005C>T
5 papers
NM_001371596.2
p.R337C
c.1009C>T
1 paper
NM_001371596.2
p.R337H
c.1010G>A
1 paper
NM_001371596.2
p.I334fs
c.1000_1001fs
1 paper
NM_001371596.2
p.K333N
c.999G>T
1 paper
NM_001371596.2
p.K333N
c.999G>C
1 paper
NM_001371596.2
p.K333K
c.999G>A
1 paper
NM_001371596.2
p.L341P
c.1022T>C
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.V346L
c.1036G>C
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