Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.F39L

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.F39L
c.117T>A
Surrounding Variants
1 paper
NM_018941.4
p.F39L
c.117T>G
1 paper
NM_018941.4
p.F39L
c.115T>C
1 paper
NM_018941.4
p.V40V
c.120G>A
2 papers
NM_018941.4
p.V38I
c.112G>A
1 paper
NM_018941.4
p.V41G
c.122T>G
1 paper
NM_018941.4
p.C42C
c.126C>T
1 paper
NM_018941.4
p.F34L
c.102C>G
1 paper
NM_018941.4
p.F34C
c.101T>G
1 paper
NM_018941.4
p.V33I
c.97G>A
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.F32L
c.94T>C
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