Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.T109T

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.T109T
c.327A>G
Surrounding Variants
1 paper
NM_018941.4
p.A110_G112delFs
c.329_335del7
1 paper
NM_018941.4
p.T109I
c.326C>T
1 paper
NM_018941.4
p.T108T
c.324G>A
1 paper
NM_018941.4
p.T111_F113delFs
c.333_339del7
2 papers
NM_018941.4
p.T108M
c.323C>T
3 papers
NM_018941.4
p.I107S
c.320T>G
2 papers
NM_018941.4
p.G112A
c.335G>C
1 paper
NM_018941.4
p.H106Y
c.316C>T
3 papers
NM_018941.4
p.H106insFs
c.316dupC
1 paper
NM_018941.4
p.F116C
c.347T>G
1 paper
NM_018941.4
p.E117K
c.349G>A
2 papers
NM_018941.4
p.E117*
c.349G>T
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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."