Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8

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
1–12 of 410 variants
31 papers
NM_001371596.2
p.T294K
c.881C>A
29 papers
NM_001371596.2
p.E336Q
c.1006G>C
23 papers
NM_001371596.2
p.M454T
c.1361T>C
20 papers
NM_001371596.2
p.R35*
c.103C>T
18 papers
NM_001371596.2
p.P412L
c.1235C>T
17 papers
NM_001371596.2
p.A252Splc
c.754+2T>A
17 papers
NM_001371596.2
p.R482*
c.1444C>T
14 papers
NM_001371596.2
p.G310D
c.929G>A
14 papers
NM_001371596.2
p.D368H
c.1102G>C
14 papers
NM_001371596.2
p.R465W
c.1393C>T
12 papers
NM_001371596.2
p.E381*
c.1141G>T
11 papers
NM_001371596.2
p.Y121C
c.362A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."