Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.R70C

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
4 papers
NM_018941.4
p.R70C
c.208C>T
Surrounding Variants
4 papers
NM_018941.4
p.R70H
c.209G>A
1 paper
NM_018941.4
p.T69M
c.206C>T
1 paper
NM_018941.4
p.A71V
c.212C>T
5 papers
NM_018941.4
p.V72F
c.214G>T
5 papers
NM_018941.4
p.A67V
c.200C>T
1 paper
NM_018941.4
p.A67delFs
c.200delC
1 paper
NM_018941.4
p.V75delFs
c.224delT
2 papers
NM_018941.4
p.Q76R
c.227A>G
1 paper
NM_018941.4
p.K61fs
c.181_182fs
5 papers
NM_018941.4
p.K61del1
c.181_182delAAG
1 paper
NM_018941.4
p.E60_K61delFs
c.180_181delGA
1 paper
NM_018941.4
p.A58D
c.173C>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."