Varaico: Literature-Extracted Genetic Variants

Gene:CLN8

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
1–12 of 221 variants
47 papers
NM_018941.4
p.R24G
c.70C>G
24 papers
NM_018941.4
p.R204C
c.610C>T
19 papers
NM_018941.4
p.W263C
c.789G>C
18 papers
NM_018941.4
p.Y158C
c.473A>G
18 papers
NM_018941.4
p.W263C
c.789G>T
16 papers
NM_018941.4
p.Q194R
c.581A>G
13 papers
NM_018941.4
p.G237R
c.709G>A
12 papers
NM_018941.4
p.G22delFs
c.66delG
12 papers
NM_018941.4
p.A30P
c.88G>C
11 papers
NM_018941.4
p.L16M
c.46C>A
11 papers
NM_018941.4
p.G237R
c.709G>C
10 papers
NM_018941.4
p.T170M
c.509C>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."