Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.L428*

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
2 papers
NM_001371596.2
p.L428*
c.1283T>G
Surrounding Variants
1 paper
NM_001371596.2
p.L428*
c.1283T>A
1 paper
NM_001371596.2
p.G427delFs
c.1281delT
10 papers
NM_001371596.2
p.G429D
c.1286G>A
1 paper
NM_001371596.2
p.G427E
c.1280G>A
1 paper
NM_001371596.2
p.G427R
c.1279G>C
1 paper
NM_001371596.2
p.G427R
c.1279G>A
1 paper
NM_001371596.2
p.Y430C
c.1289A>G
1 paper
NM_001371596.2
p.I426L
c.1276A>T
1 paper
NM_001371596.2
p.I426L
c.1276A>C
1 paper
NM_001371596.2
p.L425fs
c.1273_1274fs
1 paper
NM_001371596.2
p.G429_V432delFs
c.1287_1294del8
3 papers
NM_001371596.2
p.A423V
c.1268C>T
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