Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.I414M

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.I414M
c.1242T>G
Surrounding Variants
3 papers
NM_001371596.2
p.I414insFs
c.1241_1242ins4
3 papers
NM_001371596.2
p.I414fs
c.1240_1241fs
1 paper
NM_001371596.2
p.L416M
c.1246C>A
18 papers
NM_001371596.2
p.P412L
c.1235C>T
1 paper
NM_001371596.2
p.Q418R
c.1253A>G
1 paper
NM_001371596.2
p.H415_Q418del0
c.1245_1253del9
1 paper
NM_001371596.2
p.L409F
c.1225C>T
1 paper
NM_001371596.2
p.A406_W407delins
c.1218_1220delinsTAT
1 paper
NM_001371596.2
p.A406insFs
c.1217_1218dupCC
8 papers
NM_001371596.2
p.W407R
c.1219T>C
8 papers
NM_001371596.2
p.W407R
c.1219T>A
1 paper
NM_001371596.2
p.W407fs
c.1219_1220fs
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