Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.R204H

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.R204H
c.611G>A
Surrounding Variants
9 papers
NM_018941.4
p.R204L
c.611G>T
24 papers
NM_018941.4
p.R204C
c.610C>T
1 paper
NM_018941.4
p.C203R
c.607T>C
4 papers
NM_018941.4
p.L207R
c.620T>G
2 papers
NM_018941.4
p.F201I
c.601T>A
1 paper
NM_018941.4
p.T208insFs
c.623_624insT
1 paper
NM_018941.4
p.M200delFs
c.598_599delAT
1 paper
NM_018941.4
p.M200del1
c.598_599delATG
1 paper
NM_018941.4
p.H199D
c.595C>G
2 papers
NM_018941.4
p.H199Y
c.595C>T
1 paper
NM_018941.4
p.I198delFs
c.592delA
3 papers
NM_018941.4
p.W213del1
c.637_638delTGG
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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."