Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.N152Y

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.N152Y
c.454A>T
Surrounding Variants
2 papers
NM_018941.4
p.N152S
c.455A>G
1 paper
NM_018941.4
p.Q154_A155del1
c.461_463delAAG
1 paper
NM_018941.4
p.C149*
c.447C>A
1 paper
NM_018941.4
p.G148R
c.442G>C
1 paper
NM_018941.4
p.G156_H157delins
c.468_469delinsCC
6 papers
NM_018941.4
p.H157R
c.470A>G
2 papers
NM_018941.4
p.Y158S
c.473A>C
18 papers
NM_018941.4
p.Y158C
c.473A>G
1 paper
NM_018941.4
p.G145R
c.433G>A
1 paper
NM_018941.4
p.G145R
c.433G>C
1 paper
NM_018941.4
p.G145W
c.433G>T
1 paper
NM_018941.4
p.L144V
c.430C>G
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