Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.R447Q

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
1 paper
NM_032861.4
p.R447Q
c.1340G>A
Surrounding Variants
3 papers
NM_032861.4
p.R447*
c.1339C>T
1 paper
NM_032861.4
p.S450ins1
c.1349_1350insATC
2 papers
NM_032861.4
p.I449_S450ins0
c.1347_1349dupATC
4 papers
NM_032861.4
p.I449_S450insFs
c.1347_1350dup4
1 paper
NM_032861.4
p.V451fs
c.1351_1352fs
2 papers
NM_032861.4
p.V451fs
c.1351_1352fs
2 papers
NM_032861.4
p.T455S
c.1363A>T
2 papers
NM_032861.4
p.T455S
c.1364C>G
3 papers
NM_032861.4
p.T437_W438insFs
c.1309_1313dup5
5 papers
NM_032861.4
p.W438*
c.1314G>A
5 papers
NM_032861.4
p.W438*
c.1313G>A
2 papers
NM_032861.4
p.W460*
c.1379G>A
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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."