Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.Y158C

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
18 papers
NM_018941.4
p.Y158C
c.473A>G
Surrounding Variants
2 papers
NM_018941.4
p.Y158S
c.473A>C
6 papers
NM_018941.4
p.H157R
c.470A>G
1 paper
NM_018941.4
p.G156_H157delins
c.468_469delinsCC
1 paper
NM_018941.4
p.Q154_A155del1
c.461_463delAAG
1 paper
NM_018941.4
p.T163M
c.488C>T
2 papers
NM_018941.4
p.N152S
c.455A>G
8 papers
NM_018941.4
p.L164S
c.491T>C
1 paper
NM_018941.4
p.N152Y
c.454A>T
1 paper
NM_018941.4
p.C149*
c.447C>A
1 paper
NM_018941.4
p.E167*
c.499G>T
1 paper
NM_018941.4
p.G148R
c.442G>C
2 papers
NM_018941.4
p.T170R
c.509C>G
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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."