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.T1875M

c.5624C>T

Surrounding Variants

1 paper

NM_014866.2

p.R1885W

c.5653C>T

1 paper

NM_014866.2

p.P1860L

c.5579C>T

1 paper

NM_014866.2

p.D1859N

c.5575G>A

1 paper

NM_014866.2

p.L1855F

c.5565A>T

1 paper

NM_014866.2

p.L1855F

c.5565A>C

1 paper

NM_014866.2

p.W1894*

c.5681G>A

1 paper

NM_014866.2

p.W1894*

c.5682G>A

2 papers

NM_014866.2

p.A1929T

c.5785G>A

1 paper

NM_014866.2

p.P1938L

c.5813C>T

1 paper

NM_014866.2

p.S1943L

c.5828C>T

2 papers

NM_014866.2

p.P1945L

c.5834C>T

1 paper

NM_014866.2

p.V1947L

c.5839G>T