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

3 papers

NM_014866.2

p.R184Q

c.551G>A

Surrounding Variants

1 paper

NM_014866.2

p.G181E

c.542G>A

1 paper

NM_014866.2

p.H176Q

c.528T>G

1 paper

NM_014866.2

p.H176Q

c.528T>A

1 paper

NM_014866.2

p.H174Y

c.520C>T

1 paper

NM_014866.2

p.W215*

c.644G>A

1 paper

NM_014866.2

p.W215*

c.645G>A

1 paper

NM_014866.2

p.P150S

c.448C>T

1 paper

NM_014866.2

p.S147I

c.440G>T

1 paper

NM_014866.2

p.P224S

c.670C>T

1 paper

NM_014866.2

p.P224A

c.670C>G

1 paper

NM_014866.2

p.P224L

c.671C>T

1 paper

NM_014866.2

p.R229S

c.685C>A