Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.K132R

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.K132R
c.395A>G
Surrounding Variants
2 papers
NM_001371596.2
p.Y133*
c.399C>G
2 papers
NM_001371596.2
p.Y133*
c.399C>A
1 paper
NM_001371596.2
p.P127delFs
c.381delT
1 paper
NM_001371596.2
p.L136delFs
c.408delC
1 paper
NM_001371596.2
p.L136_V137del2
c.406_410del6
1 paper
NM_001371596.2
p.I126S
c.377T>G
1 paper
NM_001371596.2
p.A138D
c.413C>A
9 papers
NM_001371596.2
p.R139H
c.416G>A
1 paper
NM_001371596.2
p.V137_R139delFs
c.411_417del7
1 paper
NM_001371596.2
p.Y121delFs
c.362_363delAT
2 papers
NM_001371596.2
p.G143E
c.428G>A
11 papers
NM_001371596.2
p.Y121C
c.362A>G
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