Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.Q474*

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
6 papers
NM_001371596.2
p.Q474*
c.1420C>T
Surrounding Variants
1 paper
NM_001371596.2
p.V475M
c.1423G>A
1 paper
NM_001371596.2
p.L467_M470del0
c.1401_1409del9
5 papers
NM_001371596.2
p.M470V
c.1408A>G
1 paper
NM_001371596.2
p.P469L
c.1406C>T
1 paper
NM_001371596.2
p.P469T
c.1405C>A
3 papers
NM_001371596.2
p.W479*
c.1436G>A
4 papers
NM_001371596.2
p.W479*
c.1437G>A
1 paper
NM_001371596.2
p.G480R
c.1438G>C
1 paper
NM_001371596.2
p.G480R
c.1438G>A
3 papers
NM_001371596.2
p.G480V
c.1439G>T
17 papers
NM_001371596.2
p.R482*
c.1444C>T
8 papers
NM_001371596.2
p.R482P
c.1445G>C
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