Varaico: Literature-Extracted Genetic Variants

SEC16A

138 papers

RefSeq Summary

This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at ...

Pfam Domains

Sec16aa 1449–1549UCSCVesicle coat trafficking protein Sec16 mid-region

TPR_Sec16aa 1621–1886UCSCSec16 Sec23-binding domain

Gene Aliases

HGNC Name

SEC16 homolog A, endoplasmic reticulum export factor

HGNC Previous Symbol

KIAA0310

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014866.2

p.P509S

c.1525C>T

Surrounding Variants

1 paper

NM_014866.2

p.A508A

c.1524C>A

2 papers

NM_014866.2

p.G507R

c.1519G>C

2 papers

NM_014866.2

p.G507R

c.1519G>A

1 paper

NM_014866.2

p.P495T

c.1483C>A

2 papers

NM_014866.2

p.G494R

c.1480G>C

2 papers

NM_014866.2

p.G494R

c.1480G>A

1 paper

NM_014866.2

p.R532S

c.1596G>C

1 paper

NM_014866.2

p.L476F

c.1426C>T

1 paper

NM_014866.2

p.V543F

c.1627G>T

1 paper

NM_014866.2

p.G453S

c.1357G>A

1 paper

NM_014866.2

p.P449L

c.1346C>T

1 paper

NM_014866.2

p.V571I

c.1711G>A