Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.Y298*

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
10 papers
NM_001371596.2
p.Y298*
c.894T>A
Surrounding Variants
11 papers
NM_001371596.2
p.Y298*
c.894T>G
1 paper
NM_001371596.2
p.A299V
c.896C>T
1 paper
NM_001371596.2
p.W300R
c.898T>C
1 paper
NM_001371596.2
p.W300R
c.898T>A
1 paper
NM_001371596.2
p.D296fs
c.886_887fs
3 papers
NM_001371596.2
p.D296H
c.886G>C
1 paper
NM_001371596.2
p.Q302R
c.905A>G
31 papers
NM_001371596.2
p.T294K
c.881C>A
1 paper
NM_001371596.2
p.T291I
c.872C>T
1 paper
NM_001371596.2
p.I290S
c.869T>G
1 paper
NM_001371596.2
p.L307L
c.919T>C
1 paper
NM_001371596.2
p.T288A
c.862A>G
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