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.Q1065P

c.3194A>C

Surrounding Variants

1 paper

NM_014866.2

p.P1070L

c.3209C>T

1 paper

NM_014866.2

p.M1077R

c.3230T>G

8 papers

NM_014866.2

p.R1039C

c.3115C>T

1 paper

NM_014866.2

p.D1038A

c.3113A>C

1 paper

NM_014866.2

p.A1018T

c.3052G>A

1 paper

NM_014866.2

p.L1017L

c.3051C>T

2 papers

NM_014866.2

p.L1105_P1113del9

c.3313_3338del27

2 papers

NM_014866.2

p.R1115Q

c.3344G>A

2 papers

NM_014866.2

p.V1008M

c.3022G>A

1 paper

NM_014866.2

p.N1007N

c.3021C>T

1 paper

NM_014866.2

p.S1127G

c.3379A>G

1 paper

NM_014866.2

p.T1001I

c.3002C>T