Varaico: Literature-Extracted Genetic Variants

Gene:LNPK
Variant:p.P336S

LNPK

39 papers

Pfam Domains

Zn_ribbon_10aa 255–305UCSCER junction formation factor lunapark, zinc ribbon finger
Zn_ribbon_10aa 255–305UCSCER junction formation factor lunapark, zinc ribbon finger

Gene Aliases

HGNC Name

lunapark, ER junction formation factor

HGNC Previous Symbol

KIAA1715

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030650.3
p.P336S
c.1006C>T
Surrounding Variants
1 paper
NM_030650.3
p.F320V
c.958T>G
1 paper
NM_030650.3
p.E352Splc
c.1054+1G>T
1 paper
NM_030650.3
p.P318S
c.952C>T
1 paper
NM_030650.3
p.R297*
c.889C>T
1 paper
NM_030650.3
p.Q277E
c.829C>G
1 paper
NM_030650.3
p.R271Splc
c.812+91A>G
1 paper
NM_030650.3
p.V264V
c.792T>C
1 paper
NM_030650.3
p.D257fs
c.769_770fs
2 papers
NM_030650.3
p.D257delFs
c.770delT
1 paper
NM_030650.3
p.D257fs
c.769_770fs
2 papers
NM_030650.3
p.R253*
c.757C>T
4 papers
NM_030650.3
p.R251*
c.751C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."