Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1

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
1–12 of 206 variants
14 papers
NM_032861.4
p.R148*
c.442C>T
10 papers
NM_032861.4
p.A4Fs
c.10delinsACCAACAGGFs
10 papers
NM_032861.4
p.R68*
c.202C>T
8 papers
NM_032861.4
p.R468Splc
c.1403+1G>C
7 papers
NM_032861.4
p.T146delFs
c.438delG
6 papers
NM_032861.4
p.S498T
c.1493G>C
5 papers
NM_032861.4
p.V8I
c.22G>A
5 papers
NM_032861.4
p.T147fs
c.439_440fs
5 papers
NM_032861.4
p.R306*
c.916C>T
5 papers
NM_032861.4
p.R387*
c.1159C>T
5 papers
NM_032861.4
p.W438*
c.1313G>A
5 papers
NM_032861.4
p.W438*
c.1314G>A
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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."