Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.E250E

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
9 papers
NM_001371596.2
p.E250E
c.750A>G
Surrounding Variants
2 papers
NM_001371596.2
p.E251E
c.753A>G
2 papers
NM_001371596.2
p.A252Splc
c.754+1G>T
4 papers
NM_001371596.2
p.A252Splc
c.754+1G>A
17 papers
NM_001371596.2
p.A252Splc
c.754+2T>A
1 paper
NM_001371596.2
p.K245_N248del0
c.735_743del9
1 paper
NM_001371596.2
p.C244_K245delFs
c.732_733delTA
1 paper
NM_001371596.2
p.K245*
c.733A>T
1 paper
NM_001371596.2
p.C244*
c.732T>A
1 paper
NM_001371596.2
p.Q243L
c.728A>T
4 papers
NM_001371596.2
p.G241*
c.721G>T
1 paper
NM_001371596.2
p.S240*
c.719C>G
1 paper
NM_001371596.2
p.S240*
c.719C>A
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