Varaico: Literature-Extracted Genetic Variants

Gene:SEC31A
Variant:p.I462delFs

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
8 papers
NM_001077207.4
p.I462delFs
c.1384delT
Surrounding Variants
6 papers
NM_001077207.4
p.I462fs
c.1384_1385fs
2 papers
NM_001077207.4
p.I462fs
c.1384_1385fs
1 paper
NM_001077207.4
p.K461fs
c.1381_1382fs
1 paper
NM_001077207.4
p.K461fs
c.1381_1382fs
1 paper
NM_001191049.2
p.C453W
c.1359C>G
1 paper
NM_001077207.4
p.C458Y
c.1373G>A
1 paper
NM_001077207.4
p.E468K
c.1402G>A
1 paper
NM_001077207.4
p.F454C
c.1361T>G
1 paper
NM_001077207.4
p.V473M
c.1417G>A
1 paper
NM_001077207.4
p.R441Q
c.1322G>A
2 papers
NM_001077207.4
p.E435K
c.1303G>A
2 papers
NM_001077207.4
p.Q423Q
c.1269G>A
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