Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.Q418R

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.Q418R
c.1253A>G
Surrounding Variants
1 paper
NM_001371596.2
p.H415_Q418del0
c.1245_1253del9
1 paper
NM_001371596.2
p.L416M
c.1246C>A
1 paper
NM_001371596.2
p.I414M
c.1242T>G
3 papers
NM_001371596.2
p.I414insFs
c.1241_1242ins4
3 papers
NM_001371596.2
p.S422*
c.1265C>G
4 papers
NM_001371596.2
p.S422*
c.1265C>A
3 papers
NM_001371596.2
p.I414fs
c.1240_1241fs
3 papers
NM_001371596.2
p.A423V
c.1268C>T
2 papers
NM_001371596.2
p.A423G
c.1268C>G
18 papers
NM_001371596.2
p.P412L
c.1235C>T
1 paper
NM_001371596.2
p.L425fs
c.1273_1274fs
1 paper
NM_001371596.2
p.I426L
c.1276A>T
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