Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.G145W

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.G145W
c.433G>T
Surrounding Variants
1 paper
NM_018941.4
p.G145R
c.433G>A
1 paper
NM_018941.4
p.G145R
c.433G>C
1 paper
NM_018941.4
p.L144V
c.430C>G
1 paper
NM_018941.4
p.G148R
c.442G>C
1 paper
NM_018941.4
p.A142insFs
c.424dupG
1 paper
NM_018941.4
p.A142delFs
c.424delG
1 paper
NM_018941.4
p.C149*
c.447C>A
3 papers
NM_018941.4
p.H139Y
c.415C>T
1 paper
NM_018941.4
p.N152Y
c.454A>T
2 papers
NM_018941.4
p.N152S
c.455A>G
1 paper
NM_018941.4
p.I137M
c.411C>G
1 paper
NM_018941.4
p.I137insFs
c.410_411ins4
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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."