Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.S442delFs

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.S442delFs
c.1326delT
Surrounding Variants
1 paper
NM_001371596.2
p.I444L
c.1330A>C
1 paper
NM_001371596.2
p.L445insFs
c.1335dupA
6 papers
NM_001371596.2
p.P447L
c.1340C>T
1 paper
NM_001371596.2
p.P449fs
c.1345_1346fs
1 paper
NM_001371596.2
p.P449S
c.1345C>T
1 paper
NM_001371596.2
p.P449L
c.1346C>T
1 paper
NM_001371596.2
p.P449delFs
c.1345_1346delGG
1 paper
NM_001371596.2
p.S437Y
c.1310C>A
1 paper
NM_001371596.2
p.M436I
c.1308G>T
1 paper
NM_001371596.2
p.M436I
c.1308G>C
1 paper
NM_001371596.2
p.M436I
c.1308G>A
1 paper
NM_001371596.2
p.N434S
c.1301A>G
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