Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.Y121fs

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.Y121fs
c.361_362fs
Surrounding Variants
11 papers
NM_001371596.2
p.Y121C
c.362A>G
1 paper
NM_001371596.2
p.Y121insFs
c.361dupT
1 paper
NM_001371596.2
p.Y121delFs
c.362_363delAT
1 paper
NM_001371596.2
p.N118S
c.353A>G
1 paper
NM_001371596.2
p.A117V
c.350C>T
1 paper
NM_001371596.2
p.I126S
c.377T>G
3 papers
NM_001371596.2
p.V115M
c.343G>A
1 paper
NM_001371596.2
p.S114F
c.341C>T
1 paper
NM_001371596.2
p.I113del1
c.337_338delAAT
4 papers
NM_001371596.2
p.V109_I113del0
c.325_339del15
1 paper
NM_001371596.2
p.P127delFs
c.381delT
1 paper
NM_001371596.2
p.K132R
c.395A>G
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