Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.K363N

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.K363N
c.1089A>T
Surrounding Variants
1 paper
NM_001371596.2
p.K363K
c.1089A>G
1 paper
NM_001371596.2
p.K363N
c.1089A>C
1 paper
NM_001371596.2
p.I364fs
c.1090_1091fs
2 papers
NM_001371596.2
p.P362delFs
c.1086delG
1 paper
NM_001371596.2
p.I364fs
c.1090_1091fs
3 papers
NM_001371596.2
p.Q365*
c.1093C>T
1 paper
NM_001371596.2
p.P362S
c.1084C>T
1 paper
NM_001371596.2
p.F361S
c.1082T>C
14 papers
NM_001371596.2
p.D368H
c.1102G>C
3 papers
NM_001371596.2
p.D368Splc
c.1102+2T>C
4 papers
NM_001371596.2
p.P356S
c.1066C>T
1 paper
NM_001371596.2
p.I353V
c.1057A>G
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