Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_018941.4
p.M1I
c.3G>C
2 papers
NM_018941.4
p.M1_N2insFs
c.3_4insT
1 paper
NM_018941.4
p.M1I
c.3G>T
3 papers
NM_018941.4
p.M1T
c.2T>C
2 papers
NM_018941.4
p.M1insFs
c.2dupT
1 paper
NM_018941.4
p.M1L
c.1A>C
4 papers
NM_018941.4
p.M1V
c.1A>G
1 paper
NM_018941.4
p.M1L
c.1A>T
1 paper
NM_018941.4
p.M1_A4delFs
c.1_11del11
1 paper
NM_018941.4
p.M1_D6del0
c.1_18del18
1 paper
NM_018941.4
p.M1_E11del11
c.1_32del33
2 papers
NM_018941.4
p.P3_A4insT
c.7_11ins3
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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."