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.D2313N

c.6937G>A

Surrounding Variants

1 paper

NM_014866.2

p.P2326L

c.6977C>T

1 paper

NM_014866.2

p.N2329fs

c.6985_6986fs

1 paper

NM_014866.2

p.N2329insFs

c.6986_6987insAC

3 papers

NM_014866.2

p.A2334S

c.7000G>T

1 paper

NM_014866.2

p.S2285S

c.6855C>T

1 paper

NM_014866.2

p.P2278S

c.6832C>T

1 paper

NM_014866.2

p.A2270V

c.6809C>T

1 paper

NM_014866.2

p.A2269V

c.6806C>T

1 paper

NM_014866.2

p.A2255T

c.6763G>A

1 paper

NM_014866.2

p.A2249V

c.6746C>T

1 paper

NM_014866.2

p.T2231fs

c.6691_6692fs

1 paper

NM_014866.2

p.T2231delFs

c.6691delT