Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.L226P

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
3 papers
NM_018941.4
p.L226P
c.677T>C
Surrounding Variants
1 paper
NM_018941.4
p.Y227C
c.680A>G
1 paper
NM_018941.4
p.V223V
c.669C>A
8 papers
NM_018941.4
p.P229A
c.685C>G
2 papers
NM_018941.4
p.L222P
c.665T>C
1 paper
NM_018941.4
p.L222R
c.665T>G
1 paper
NM_018941.4
p.G221D
c.662G>A
2 papers
NM_018941.4
p.G221S
c.661G>A
1 paper
NM_018941.4
p.D220A
c.659A>C
1 paper
NM_018941.4
p.L233V
c.697C>G
1 paper
NM_018941.4
p.L233_F234delFs
c.699_700delGT
1 paper
NM_018941.4
p.W219*
c.657G>A
1 paper
NM_018941.4
p.W219*
c.656G>A
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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."