Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.S45P

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.S45P
c.133T>C
Surrounding Variants
2 papers
NM_032861.4
p.G43Splc
c.129-1G>C
3 papers
NM_032861.4
p.F47I
c.139T>A
2 papers
NM_032861.4
p.G43Splc
c.129-2A>C
1 paper
NM_032861.4
p.L48L
c.144T>C
1 paper
NM_032861.4
p.Y50H
c.148T>C
1 paper
NM_032861.4
p.G43Splc
c.129-34C>G
10 papers
NM_032861.4
p.R68*
c.202C>T
1 paper
NM_032861.4
p.K70*
c.208A>T
3 papers
NM_032861.4
p.Y76insFs
c.227_228dupAT
1 paper
NM_032861.4
p.V80F
c.238G>T
1 paper
NM_032861.4
p.D83D
c.249C>T
1 paper
NM_032861.4
p.N87Y
c.259A>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."