Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.R24H

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
2 papers
NM_018941.4
p.R24H
c.71G>A
Surrounding Variants
1 paper
NM_018941.4
p.R24delFs
c.72delC
47 papers
NM_018941.4
p.R24G
c.70C>G
1 paper
NM_018941.4
p.R24C
c.70C>T
1 paper
NM_018941.4
p.I23fs
c.67_68fs
3 papers
NM_018941.4
p.I23fs
c.67_68fs
1 paper
NM_018941.4
p.T26M
c.77C>T
1 paper
NM_018941.4
p.G22E
c.65G>A
2 papers
NM_018941.4
p.G22fs
c.64_65fs
1 paper
NM_018941.4
p.G22fs
c.64_65fs
1 paper
NM_018941.4
p.W21*
c.63G>A
1 paper
NM_018941.4
p.W21*
c.62G>A
1 paper
NM_018941.4
p.W21S
c.62G>C
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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."