Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.G480R

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.G480R
c.1438G>A
Surrounding Variants
1 paper
NM_001371596.2
p.G480R
c.1438G>C
3 papers
NM_001371596.2
p.G480V
c.1439G>T
4 papers
NM_001371596.2
p.W479*
c.1437G>A
3 papers
NM_001371596.2
p.W479*
c.1436G>A
17 papers
NM_001371596.2
p.R482*
c.1444C>T
8 papers
NM_001371596.2
p.R482P
c.1445G>C
2 papers
NM_001371596.2
p.A484V
c.1451C>T
1 paper
NM_001371596.2
p.V475M
c.1423G>A
6 papers
NM_001371596.2
p.Q474*
c.1420C>T
1 paper
NM_001371596.2
p.L467_M470del0
c.1401_1409del9
1 paper
NM_001371596.2
p.C489insFs
c.1467dupT
5 papers
NM_001371596.2
p.M470V
c.1408A>G
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