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.S1127G

c.3379A>G

Surrounding Variants

2 papers

NM_014866.2

p.R1115Q

c.3344G>A

2 papers

NM_014866.2

p.L1105_P1113del9

c.3313_3338del27

1 paper

NM_014866.2

p.A1146T

c.3436G>A

1 paper

NM_014866.2

p.G1150S

c.3448G>A

1 paper

NM_014866.2

p.P1152L

c.3455C>T

1 paper

NM_014866.2

p.D1155A

c.3464A>C

1 paper

NM_014866.2

p.D1167N

c.3499G>A

1 paper

NM_014866.2

p.Y1169_Q1170insA

c.3505_3509ins3

1 paper

NM_014866.2

p.L1165_P1171del7

c.3493_3512del21

1 paper

NM_014866.2

p.Q1172R

c.3515A>G

1 paper

NM_014866.2

p.M1077R

c.3230T>G

1 paper

NM_014866.2

p.P1070L

c.3209C>T