Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.G237R

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
13 papers
NM_018941.4
p.G237R
c.709G>A
Surrounding Variants
11 papers
NM_018941.4
p.G237R
c.709G>C
1 paper
NM_018941.4
p.V236fs
c.706_707fs
1 paper
NM_018941.4
p.A239del1
c.715_717delGCT
1 paper
NM_018941.4
p.F234L
c.702C>A
1 paper
NM_018941.4
p.F234L
c.702C>G
1 paper
NM_018941.4
p.L235delFs
c.703delC
1 paper
NM_018941.4
p.F234L
c.700T>C
1 paper
NM_018941.4
p.F234fs
c.700_701fs
1 paper
NM_018941.4
p.L233V
c.697C>G
1 paper
NM_018941.4
p.L233_F234delFs
c.699_700delGT
3 papers
NM_018941.4
p.T242M
c.725C>T
4 papers
NM_018941.4
p.L243P
c.728T>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."