Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.Q255*

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
3 papers
NM_018941.4
p.Q255*
c.763C>T
Surrounding Variants
1 paper
NM_018941.4
p.Q255insFs
c.764dupA
5 papers
NM_018941.4
p.Q255E
c.763C>G
1 paper
NM_018941.4
p.Q255_D262del0
c.765_785del21
7 papers
NM_018941.4
p.Q256E
c.766C>G
1 paper
NM_018941.4
p.Q256insFs
c.767_768insCC
1 paper
NM_018941.4
p.Q256_L257insFs
c.768_769dupGC
1 paper
NM_018941.4
p.K253del1
c.757_759delAAG
3 papers
NM_018941.4
p.P260L
c.779C>T
1 paper
NM_018941.4
p.V261A
c.782T>C
1 paper
NM_018941.4
p.D262N
c.784G>A
1 paper
NM_018941.4
p.D262Y
c.784G>T
1 paper
NM_018941.4
p.W263*
c.788G>A
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