Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.L369S

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.L369S
c.1106T>C
Surrounding Variants
1 paper
NM_001371596.2
p.D368G
c.1103A>G
9 papers
NM_001371596.2
p.D368H
c.1102G>C
1 paper
NM_001371595.1
p.N277delFs
c.831delA
1 paper
NM_001371596.2
p.N372K
c.1116T>G
1 paper
NM_001371596.2
p.N372K
c.1116T>A
1 paper
NM_001371596.2
p.S373L
c.1118C>T
1 paper
NM_001371596.2
p.I374I
c.1122C>T
3 papers
NM_001371596.2
p.F379S
c.1136T>C
12 papers
NM_001371596.2
p.E381*
c.1141G>T
1 paper
NM_001371596.2
p.E381fs
c.1141_1142fs
1 paper
NM_001371596.2
p.I384T
c.1151T>C
5 papers
NM_001371596.2
p.G385R
c.1153G>C
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