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.D1288V

c.3863A>T

Surrounding Variants

1 paper

NM_014866.2

p.D1288E

c.3864C>G

1 paper

NM_014866.2

p.D1288E

c.3864C>A

5 papers

NM_014866.2

p.R1274C

c.3820C>T

1 paper

NM_014866.2

p.Y1320Y

c.3960C>T

1 paper

NM_014866.2

p.H1335P

c.4004A>C

1 paper

NM_014866.2

p.V1343M

c.4027G>A

1 paper

NM_014866.2

p.R1345Q

c.4034G>A

1 paper

NM_014866.2

p.R1367C

c.4099C>T

1 paper

NM_014866.2

p.S1372P

c.4114T>C

1 paper

NM_014866.2

p.H1383D

c.4147C>G

1 paper

NM_014866.2

p.Y1390Y

c.4170C>T

1 paper

NM_014866.2

p.R1409H

c.4226G>A