Varaico: Literature-Extracted Genetic Variants

SEC16B

101 papers

RefSeq Summary

SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 171924...

Pfam Domains

Sec16aa 279–378UCSCVesicle coat trafficking protein Sec16 mid-region

TPR_Sec16aa 445–715UCSCSec16 Sec23-binding domain

Gene Aliases

HGNC Name

SEC16 homolog B, endoplasmic reticulum export factor

HGNC Previous Symbol

LZTR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_033127.4

p.P433delFs

c.1299delG

Surrounding Variants

1 paper

NM_033127.4

p.P433insFs

c.1299dupC

1 paper

NM_033127.4

p.S434N

c.1301G>A

1 paper

NM_033127.4

p.P433fs

c.1297_1298fs

1 paper

NM_033127.4

p.S434fs

c.1300_1301fs

1 paper

NM_033127.4

p.P433H

c.1298C>A

1 paper

NM_033127.4

p.I385V

c.1153A>G

1 paper

NM_033127.4

p.G378_S379Splc

c.1134+127A>C

1 paper

NM_033127.4

p.R361K

c.1082G>A

1 paper

NM_033127.4

p.R333Splc

c.999-57C>T

1 paper

NM_033127.4

p.R333Splc

c.998+1G>C

1 paper

NM_033127.4

p.S328_G329insCAT

c.982_986ins9

2 papers

NM_033127.4

p.R325T

c.974G>C