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.L362L

c.1086A>G

Surrounding Variants

1 paper

NM_014866.2

p.L362P

c.1085T>C

2 papers

NM_014866.2

p.P361S

c.1081C>T

1 paper

NM_014866.2

p.A368V

c.1103C>T

1 paper

NM_014866.2

p.G356R

c.1066G>C

1 paper

NM_014866.2

p.G356R

c.1066G>A

4 papers

NM_014866.2

p.S369_A371del0

c.1105_1113del9

1 paper

NM_014866.2

p.A373V

c.1118C>T

1 paper

NM_014866.2

p.P350L

c.1049C>T

3 papers

NM_014866.2

p.R346H

c.1037G>A

1 paper

NM_014866.2

p.G379E

c.1136G>A

1 paper

NM_014866.2

p.E382D

c.1146A>T

3 papers

NM_014866.2

p.G340E

c.1019G>A