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

2 papers

NM_014866.2

p.N433S

c.1298A>G

Surrounding Variants

1 paper

NM_014866.2

p.S422N

c.1265G>A

1 paper

NM_014866.2

p.A420S

c.1258G>T

1 paper

NM_014866.2

p.P449L

c.1346C>T

1 paper

NM_014866.2

p.G453S

c.1357G>A

1 paper

NM_014866.2

p.D402N

c.1204G>A

2 papers

NM_014866.2

p.A398V

c.1193C>T

1 paper

NM_014866.2

p.A398E

c.1193C>A

1 paper

NM_014866.2

p.G393D

c.1178G>A

1 paper

NM_014866.2

p.E390insFs

c.1169_1170insA

1 paper

NM_014866.2

p.S389_K391delFs

c.1165_1171del7

1 paper

NM_014866.2

p.L476F

c.1426C>T

1 paper

NM_014866.2

p.E390fs

c.1168_1169fs