Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.W340delFs

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.W340delFs
c.1018delA
Surrounding Variants
1 paper
NM_032861.4
p.G339V
c.1016G>T
2 papers
NM_032861.4
p.G339R
c.1015G>C
1 paper
NM_032861.4
p.H358N
c.1072C>A
2 papers
NM_032861.4
p.R368*
c.1102C>T
1 paper
NM_032861.4
p.V371fs
c.1111_1112fs
1 paper
NM_032861.4
p.V371delFs
c.1112_1113delCA
3 papers
NM_032861.4
p.K374_Y375ins0
c.1122_1124dupATA
2 papers
NM_032861.4
p.Y375*
c.1125T>G
2 papers
NM_032861.4
p.Y375*
c.1125T>A
2 papers
NM_032861.4
p.Q376*
c.1126C>T
1 paper
NM_032861.4
p.Y375ins1
c.1124_1125insATA
1 paper
NM_032861.4
p.Y380C
c.1139A>G
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