Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.P398R

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.P398R
c.1193C>G
Surrounding Variants
2 papers
NM_001371596.2
p.P398L
c.1193C>T
1 paper
NM_001371596.2
p.T399A
c.1195A>G
1 paper
NM_001371596.2
p.S402L
c.1205C>T
1 paper
NM_001371596.2
p.D394G
c.1181A>G
1 paper
NM_001371596.2
p.S402S
c.1206G>C
1 paper
NM_001371596.2
p.I403L
c.1207A>C
3 papers
NM_001371596.2
p.S402delFs
c.1206delC
2 papers
NM_001371596.2
p.Q405*
c.1213C>T
1 paper
NM_001371596.2
p.Q405K
c.1213C>A
1 paper
NM_001371596.2
p.A406V
c.1217C>T
1 paper
NM_001371596.2
p.A406insFs
c.1217_1218dupCC
8 papers
NM_001371596.2
p.W407R
c.1219T>C
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