Varaico: Literature-Extracted Genetic Variants

Gene:SEC31A
Variant:p.W221C

SEC31A

105 papers

RefSeq Summary

The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicl...

Pfam Domains

TPR_Sec16aa 573–772UCSCSec16 Sec23-binding domain

Gene Aliases

HGNC Name

SEC31 homolog A, COPII component

HGNC Previous Symbol

SEC31L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001077207.4
p.W221C
c.663G>C
Surrounding Variants
1 paper
NM_001077207.4
p.W221C
c.663G>T
1 paper
NM_001077207.4
p.W221R
c.661T>C
1 paper
NM_001077207.4
p.G218G
c.654G>T
1 paper
NM_001077207.4
p.M229insFs
c.686_687ins5
1 paper
NM_001077207.4
p.R213_M214Splc
c.640-4T>G
1 paper
NM_001077207.4
p.E234Q
c.700G>C
1 paper
NM_001077207.4
p.E234insFs
c.701_702ins5
1 paper
NM_001077207.4
p.E234delFs
c.700delC
1 paper
NM_001077207.4
p.W244*
c.731G>A
1 paper
NM_001077207.4
p.W244*
c.732G>A
1 paper
NM_001077207.4
p.R247L
c.740G>T
1 paper
NM_001077207.4
p.R261Splc
c.782+542G>T
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