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.G1596C

c.4786G>T

Surrounding Variants

1 paper

NM_014866.2

p.P1607L

c.4820C>T

1 paper

NM_014866.2

p.A1610A

c.4830C>T

1 paper

NM_014866.2

p.Y1627F

c.4880A>T

1 paper

NM_014866.2

p.G1628S

c.4882G>A

1 paper

NM_014866.2

p.G1628A

c.4883G>C

1 paper

NM_014866.2

p.R1629C

c.4885C>T

2 papers

NM_014866.2

p.V1551M

c.4651G>A

1 paper

NM_014866.2

p.L1536V

c.4606C>G

3 papers

NM_014866.2

p.R1495Q

c.4484G>A

2 papers

NM_014866.2

p.T1488M

c.4463C>T

1 paper

NM_014866.2

p.G1457S

c.4369G>A

1 paper

NM_014866.2

p.L1647V

c.4939C>G