Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.E167*

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.E167*
c.499G>T
Surrounding Variants
8 papers
NM_018941.4
p.L164S
c.491T>C
2 papers
NM_018941.4
p.T170R
c.509C>G
10 papers
NM_018941.4
p.T170M
c.509C>T
1 paper
NM_018941.4
p.T163M
c.488C>T
1 paper
NM_018941.4
p.T173I
c.518C>T
1 paper
NM_018941.4
p.T173T
c.519C>T
1 paper
NM_018941.4
p.C174W
c.522C>G
1 paper
NM_018941.4
p.V175I
c.523G>A
2 papers
NM_018941.4
p.Y158S
c.473A>C
18 papers
NM_018941.4
p.Y158C
c.473A>G
6 papers
NM_018941.4
p.H157R
c.470A>G
1 paper
NM_018941.4
p.W177C
c.531G>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."