Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.W213G

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.W213G
c.637T>G
Surrounding Variants
3 papers
NM_018941.4
p.W213del1
c.637_638delTGG
1 paper
NM_018941.4
p.W217L
c.650G>T
1 paper
NM_018941.4
p.T208insFs
c.623_624insT
4 papers
NM_018941.4
p.L207R
c.620T>G
1 paper
NM_018941.4
p.W219*
c.656G>A
1 paper
NM_018941.4
p.W219*
c.657G>A
1 paper
NM_018941.4
p.D220A
c.659A>C
2 papers
NM_018941.4
p.G221S
c.661G>A
1 paper
NM_018941.4
p.G221D
c.662G>A
1 paper
NM_018941.4
p.R204H
c.611G>A
9 papers
NM_018941.4
p.R204L
c.611G>T
24 papers
NM_018941.4
p.R204C
c.610C>T
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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."