Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.R306*

SERAC1

158 papers

RefSeq Summary

The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded prot...

Pfam Domains

SERAC1_Naa 124–195UCSCSERAC1 N-terminal domain

Gene Aliases

HGNC Name

serine active site containing 1

HGNC Alias Symbol

FLJ14917

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_032861.4
p.R306*
c.916C>T
Surrounding Variants
1 paper
NM_032861.4
p.R306Q
c.917G>A
2 papers
NM_032861.4
p.L301delFs
c.903delA
1 paper
NM_032861.4
p.I318K
c.953T>A
1 paper
NM_032861.4
p.M325fs
c.973_974fs
1 paper
NM_032861.4
p.M325insFs
c.973dupA
1 paper
NM_032861.4
p.I335V
c.1003A>G
1 paper
NM_032861.4
p.R337C
c.1009C>T
1 paper
NM_032861.4
p.G339R
c.1015G>C
1 paper
NM_032861.4
p.V271M
c.811G>A
1 paper
NM_032861.4
p.Y259*
c.777T>G
1 paper
NM_032861.4
p.Y259*
c.777T>A
2 papers
NM_032861.4
p.P258fs
c.772_773fs
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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."