Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.R97L

CLN8

208 papers

RefSeq Summary

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to...

Pfam Domains

TRAM_LAG1_CLN8aa 63–254UCSCTLC domain

Gene Aliases

HGNC Name

CLN8 transmembrane ER and ERGIC protein

HGNC Previous Symbols

EPMR; C8orf61

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018941.4
p.R97L
c.290G>T
Surrounding Variants
2 papers
NM_018941.4
p.R97H
c.290G>A
1 paper
NM_018941.4
p.R97_G98insFs
c.291_292insC
1 paper
NM_018941.4
p.G98S
c.292G>A
1 paper
NM_018941.4
p.G98insFs
c.292_293insC
4 papers
NM_018941.4
p.Q100*
c.298C>T
2 papers
NM_018941.4
p.Q100R
c.299A>G
1 paper
NM_018941.4
p.D94N
c.280G>A
1 paper
NM_018941.4
p.A93_D94insFs
c.279_280insG
1 paper
NM_018941.4
p.H92Y
c.274C>T
9 papers
NM_018941.4
p.V90insFs
c.268_269insC
1 paper
NM_018941.4
p.P89_V90insFs
c.267_268insC
3 papers
NM_018941.4
p.H106insFs
c.316dupC
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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."