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.G992R

c.2974G>A

Surrounding Variants

1 paper

NM_014866.2

p.G992R

c.2974G>C

2 papers

NM_014866.2

p.A993T

c.2977G>A

1 paper

NM_014866.2

p.T997A

c.2989A>G

1 paper

NM_014866.2

p.T1001I

c.3002C>T

1 paper

NM_014866.2

p.P969_P976delFs

c.2905_2927del23

1 paper

NM_014866.2

p.N1007N

c.3021C>T

2 papers

NM_014866.2

p.V1008M

c.3022G>A

1 paper

NM_014866.2

p.A970V

c.2909C>T

1 paper

NM_014866.2

p.P969fs

c.2905_2906fs

1 paper

NM_014866.2

p.L1017L

c.3051C>T

1 paper

NM_014866.2

p.A1018T

c.3052G>A

1 paper

NM_014866.2

p.S961N

c.2882G>A