Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.C464S

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
3 papers
NM_032861.4
p.C464S
c.1391G>C
Surrounding Variants
3 papers
NM_032861.4
p.C464S
c.1390T>A
1 paper
NM_032861.4
p.M466L
c.1396A>T
1 paper
NM_032861.4
p.M466L
c.1396A>C
2 papers
NM_032861.4
p.M466_E467ins11
c.1396_1400ins33
1 paper
NM_032861.4
p.M466insFs
c.1396dupA
2 papers
NM_032861.4
p.W460*
c.1380G>A
2 papers
NM_032861.4
p.W460*
c.1379G>A
8 papers
NM_032861.4
p.R468Splc
c.1403+1G>C
2 papers
NM_032861.4
p.T455S
c.1364C>G
2 papers
NM_032861.4
p.T455S
c.1363A>T
2 papers
NM_032861.4
p.V451fs
c.1351_1352fs
4 papers
NM_032861.4
p.I449_S450insFs
c.1347_1350dup4
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."