Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.R465W

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
14 papers
NM_001371596.2
p.R465W
c.1393C>T
Surrounding Variants
11 papers
NM_001371596.2
p.R465Q
c.1394G>A
7 papers
NM_001371596.2
p.A464V
c.1391C>T
1 paper
NM_001371596.2
p.A464insFs
c.1390_1391insA
1 paper
NM_001371596.2
p.A464T
c.1390G>A
1 paper
NM_001371596.2
p.P469T
c.1405C>A
1 paper
NM_001371596.2
p.P469L
c.1406C>T
1 paper
NM_001371596.2
p.S460P
c.1378T>C
5 papers
NM_001371596.2
p.M470V
c.1408A>G
1 paper
NM_001371596.2
p.L467_M470del0
c.1401_1409del9
6 papers
NM_001371596.2
p.T458K
c.1373C>A
1 paper
NM_001371596.2
p.V452_L457delFs
c.1354_1369del16
1 paper
NM_001371596.2
p.W456*
c.1368G>A
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