Varaico: Literature-Extracted Genetic Variants

Gene:SEC31A
Variant:p.G336G

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
2 papers
NM_001077207.4
p.G336G
c.1008T>A
Surrounding Variants
2 papers
NM_001077207.4
p.Y331*
c.993T>A
1 paper
NM_001077207.4
p.S323L
c.968C>T
1 paper
NM_001077207.4
p.A317V
c.950C>T
1 paper
NM_001077207.4
p.Y297H
c.889T>C
1 paper
NM_001077207.4
p.L381fs
c.1141_1142fs
1 paper
NM_001077207.4
p.L381insFs
c.1142dupT
1 paper
NM_001077207.4
p.P386P
c.1158G>A
1 paper
NM_001077207.4
p.G395S
c.1183G>A
2 papers
NM_001077207.4
p.Q423Q
c.1269G>A
2 papers
NM_001077207.4
p.E435K
c.1303G>A
1 paper
NM_001077207.4
p.R441Q
c.1322G>A
1 paper
NM_001077207.4
p.F454C
c.1361T>G
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