Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.I93L

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.I93L
c.277A>C
Surrounding Variants
1 paper
NM_001371596.2
p.I93L
c.277A>T
1 paper
NM_001371596.2
p.I93V
c.277A>G
2 papers
NM_001371596.2
p.P92R
c.275C>G
1 paper
NM_001371596.2
p.P92insFs
c.275_276insAA
1 paper
NM_001371596.2
p.I93M
c.279A>G
1 paper
NM_001371596.2
p.A90P
c.268G>C
1 paper
NM_001371596.2
p.A90T
c.268G>A
4 papers
NM_001371596.2
p.W97C
c.291G>T
4 papers
NM_001371596.2
p.W97C
c.291G>C
1 paper
NM_001371596.2
p.S98P
c.292T>C
4 papers
NM_001371596.2
p.Q87*
c.259C>T
1 paper
NM_001371596.2
p.G86G
c.258C>A
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