Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.N125S

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
5 papers
NM_018941.4
p.N125S
c.374A>G
Surrounding Variants
1 paper
NM_018941.4
p.R129G
c.385C>G
1 paper
NM_018941.4
p.R129W
c.385C>T
1 paper
NM_018941.4
p.A120E
c.359C>A
1 paper
NM_018941.4
p.D132delFs
c.395_396delAC
1 paper
NM_018941.4
p.L133delFs
c.397_398delTT
1 paper
NM_018941.4
p.E117K
c.349G>A
2 papers
NM_018941.4
p.E117*
c.349G>T
1 paper
NM_018941.4
p.F134Y
c.401T>A
1 paper
NM_018941.4
p.F116C
c.347T>G
1 paper
NM_018941.4
p.I137insFs
c.410_411ins4
1 paper
NM_018941.4
p.I137M
c.411C>G
2 papers
NM_018941.4
p.G112A
c.335G>C
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