Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.A30delFs

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
7 papers
NM_018941.4
p.A30delFs
c.88delG
Surrounding Variants
12 papers
NM_018941.4
p.A30P
c.88G>C
1 paper
NM_018941.4
p.A30fs
c.88_89fs
1 paper
NM_018941.4
p.A30S
c.88G>T
1 paper
NM_018941.4
p.A30fs
c.88_89fs
1 paper
NM_018941.4
p.G31R
c.91G>C
3 papers
NM_018941.4
p.M28insFs
c.84dupG
1 paper
NM_018941.4
p.G31D
c.92G>A
1 paper
NM_018941.4
p.L27P
c.80T>C
1 paper
NM_018941.4
p.F32L
c.94T>C
1 paper
NM_018941.4
p.F32L
c.96T>A
1 paper
NM_018941.4
p.F32L
c.96T>G
1 paper
NM_018941.4
p.T26M
c.77C>T
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