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.A629delFs

c.1887delG

Surrounding Variants

1 paper

NM_014866.2

p.R628C

c.1882C>T

1 paper

NM_014866.2

p.A650T

c.1948G>A

1 paper

NM_014866.2

p.T605A

c.1813A>G

1 paper

NM_014866.2

p.C670G

c.2008T>G

1 paper

NM_014866.2

p.C670Y

c.2009G>A

1 paper

NM_014866.2

p.Y584*

c.1752C>G

1 paper

NM_014866.2

p.Y584*

c.1752C>A

1 paper

NM_014866.2

p.V571I

c.1711G>A

2 papers

NM_014866.2

p.P690L

c.2069C>T

1 paper

NM_014866.2

p.P702A

c.2104C>G

1 paper

NM_014866.2

p.E705K

c.2113G>A

1 paper

NM_014866.2

p.P715L

c.2144C>T