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.P818L

c.2453C>T

Surrounding Variants

1 paper

NM_014866.2

p.S846A

c.2536T>G

1 paper

NM_014866.2

p.G786R

c.2356G>C

1 paper

NM_014866.2

p.P778P

c.2334G>C

1 paper

NM_014866.2

p.S871fs

c.2611_2612fs

1 paper

NM_014866.2

p.K752I

c.2255A>T

1 paper

NM_014866.2

p.A751G

c.2252C>G

1 paper

NM_014866.2

p.A741T

c.2221G>A

1 paper

NM_014866.2

p.P899_S900insT

c.2695_2699ins3

1 paper

NM_014866.2

p.N737I

c.2210A>T

1 paper

NM_014866.2

p.Q728Q

c.2184A>G

1 paper

NM_014866.2

p.T723S

c.2167A>T

1 paper

NM_014866.2

p.P715L

c.2144C>T