Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.L26F

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.L26F
c.78A>T
Surrounding Variants
1 paper
NM_001371596.2
p.L26F
c.78A>C
1 paper
NM_001371596.2
p.L26delFs
c.77delA
1 paper
NM_001371596.2
p.L26*
c.77T>G
1 paper
NM_001371596.2
p.L26*
c.77T>A
1 paper
NM_001371596.2
p.E29K
c.85G>A
1 paper
NM_001371596.2
p.W23C
c.69G>T
1 paper
NM_001371596.2
p.W23C
c.69G>C
1 paper
NM_001371596.2
p.E30delFs
c.88delC
1 paper
NM_001371596.2
p.E22_E29del8
c.64_86del24
2 papers
NM_001371596.2
p.E22D
c.66A>T
2 papers
NM_001371596.2
p.E22D
c.66A>C
1 paper
NM_001371596.2
p.E22*
c.64G>T
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