Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.D119Splc

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.D119Splc
c.356-216C>T
Surrounding Variants
1 paper
NM_032861.4
p.S122G
c.364A>G
1 paper
NM_032861.4
p.V124A
c.371T>C
1 paper
NM_032861.4
p.D125G
c.374A>G
1 paper
NM_032861.4
p.I126V
c.376A>G
1 paper
NM_032861.4
p.R138Q
c.413G>A
5 papers
NM_032861.4
p.T147fs
c.439_440fs
7 papers
NM_032861.4
p.T146delFs
c.438delG
1 paper
NM_032861.4
p.T147M
c.440C>T
14 papers
NM_032861.4
p.R148*
c.442C>T
2 papers
NM_032861.4
p.S156insFs
c.466_467ins11
1 paper
NM_032861.4
p.S156insFs
c.467_468insT
1 paper
NM_032861.4
p.D119Splc
c.355+300A>G
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."