Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.A314T

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.A314T
c.940G>A
Surrounding Variants
5 papers
NM_001371596.2
p.I312T
c.935T>C
14 papers
NM_001371596.2
p.G310D
c.929G>A
1 paper
NM_001371596.2
p.V318I
c.952G>A
1 paper
NM_001371596.2
p.V318D
c.953T>A
1 paper
NM_001371596.2
p.L307L
c.919T>C
1 paper
NM_001371596.2
p.V321I
c.961G>A
1 paper
NM_001371596.2
p.V322F
c.964G>T
1 paper
NM_001371596.2
p.Q302R
c.905A>G
1 paper
NM_001371596.2
p.V327L
c.979G>C
1 paper
NM_001371596.2
p.V327delFs
c.979delC
1 paper
NM_001371596.2
p.W300R
c.898T>C
1 paper
NM_001371596.2
p.W300R
c.898T>A
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