Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.K104*

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.K104*
c.310A>T
Surrounding Variants
1 paper
NM_032861.4
p.R103*
c.307A>T
1 paper
NM_032861.4
p.V102E
c.305T>A
1 paper
NM_032861.4
p.Q93*
c.277C>T
1 paper
NM_032861.4
p.F117I
c.349T>A
1 paper
NM_032861.4
p.F117insFs
c.349dupT
1 paper
NM_032861.4
p.D119Splc
c.355+11A>G
1 paper
NM_032861.4
p.D119Splc
c.355+297C>T
1 paper
NM_032861.4
p.D119Splc
c.355+300A>G
1 paper
NM_032861.4
p.N87Y
c.259A>T
1 paper
NM_032861.4
p.D83D
c.249C>T
1 paper
NM_032861.4
p.V80F
c.238G>T
3 papers
NM_032861.4
p.Y76insFs
c.227_228dupAT
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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."