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.S64N

c.191G>A

Surrounding Variants

1 paper

NM_014866.2

p.P66Q

c.197C>A

1 paper

NM_014866.2

p.T52M

c.155C>T

1 paper

NM_014866.2

p.P50S

c.148C>T

1 paper

NM_014866.2

p.Q79*

c.235C>T

1 paper

NM_014866.2

p.Q79P

c.236A>C

1 paper

NM_014866.2

p.P47R

c.140C>G

1 paper

NM_014866.2

p.P83P

c.249C>T

1 paper

NM_014866.2

p.V41E

c.122T>A

1 paper

NM_014866.2

p.Q88R

c.263A>G

1 paper

NM_014866.2

p.L93F

c.277C>T

1 paper

NM_014866.2

p.R34Q

c.101G>A

1 paper

NM_014866.2

p.Q104H

c.312G>T