Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.I30T

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
2 papers
NM_032861.4
p.I30T
c.89T>C
Surrounding Variants
3 papers
NM_032861.4
p.R31*
c.91A>T
1 paper
NM_032861.4
p.R28*
c.82A>T
2 papers
NM_032861.4
p.R31Splc
c.91+6T>C
1 paper
NM_032861.4
p.P21L
c.62C>T
1 paper
NM_032861.4
p.A4_I9delins
c.10_27delinsACCAACAGG
5 papers
NM_032861.4
p.V8I
c.22G>A
1 paper
NM_032861.4
p.C7C
c.21C>T
3 papers
NM_032861.4
p.C7W
c.21C>G
1 paper
NM_032861.4
p.A4delins
c.11delinsACCAACAGGT
10 papers
NM_032861.4
p.A4Fs
c.10delinsACCAACAGGFs
1 paper
NM_032861.4
p.A4Fs
c.10delinsACCFs
1 paper
NM_032861.4
p.M1_A4Fs
c.1_10delinsACCAACAGGFs
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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."