Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.I495L

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.I495L
c.1483A>C
Surrounding Variants
1 paper
NM_032861.4
p.I495L
c.1483A>T
1 paper
NM_032861.4
p.S498R
c.1492A>C
6 papers
NM_032861.4
p.S498T
c.1493G>C
1 paper
NM_032861.4
p.S498S
c.1494C>T
1 paper
NM_032861.4
p.M499V
c.1495A>G
3 papers
NM_032861.4
p.G500R
c.1498G>C
3 papers
NM_032861.4
p.G500R
c.1498G>A
1 paper
NM_032861.4
p.G501Splc
c.1501+5G>A
1 paper
NM_032861.4
p.V487F
c.1459G>T
4 papers
NM_032861.4
p.L479del1
c.1435_1437delAAG
1 paper
NM_032861.4
p.K469N
c.1407G>T
1 paper
NM_032861.4
p.K469N
c.1407G>C
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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."