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

1–12 of 253 variants

8 papers

NM_014866.2

p.R1039C

c.3115C>T

5 papers

NM_014866.2

p.R1274C

c.3820C>T

4 papers

NM_014866.2

p.S369_A371del0

c.1105_1113del9

3 papers

NM_014866.2

p.R184Q

c.551G>A

3 papers

NM_014866.2

p.G340E

c.1019G>A

3 papers

NM_014866.2

p.R346H

c.1037G>A

3 papers

NM_014866.2

p.R1495Q

c.4484G>A

3 papers

NM_014866.2

p.A2334S

c.7000G>T

2 papers

NM_014866.2

p.P15S

c.43C>T

2 papers

NM_014866.2

p.P361S

c.1081C>T

2 papers

NM_014866.2

p.A398V

c.1193C>T

2 papers

NM_014866.2

p.N433S

c.1298A>G