Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.Y43S

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.Y43S
c.128A>C
Surrounding Variants
2 papers
NM_001371596.2
p.M46fs
c.136_137fs
1 paper
NM_001371595.1
p.M1insFs
c.2dupT
2 papers
NM_001371596.2
p.M46fs
c.136_137fs
3 papers
NM_001371596.2
p.M46delFs
c.136_137delAT
1 paper
NM_001371596.2
p.W23_I39delFs
c.67_115del49
1 paper
NM_001371595.1
p.F2insFs
c.4_5insT
2 papers
NM_001371596.2
p.S38F
c.113C>T
1 paper
NM_001371596.2
p.L44_L48delFs
c.131_143del13
2 papers
NM_001371596.2
p.S49G
c.145A>G
1 paper
NM_001371596.2
p.S50N
c.149G>A
6 papers
NM_001371596.2
p.R35Q
c.104G>A
1 paper
NM_001371596.2
p.R35delFs
c.103delG
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