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

3 papers

NM_033127.4

p.Q845H

c.2535G>T

Surrounding Variants

3 papers

NM_033127.4

p.Q845H

c.2535G>C

1 paper

NM_033127.4

p.G849S

c.2545G>A

1 paper

NM_033127.4

p.S840T

c.2518T>A

2 papers

NM_033127.4

p.V839E

c.2516T>A

1 paper

NM_033127.4

p.E836delFs

c.2506delC

1 paper

NM_033127.4

p.Q857_T858Splc

c.2571+1G>A

1 paper

NM_033127.4

p.A818fs

c.2452_2453fs

1 paper

NM_033127.4

p.T761_S771insFs

c.2283_2311dup29

1 paper

NM_033127.4

p.E763fs

c.2287_2288fs

1 paper

NM_033127.4

p.E763insFs

c.2287dupG

1 paper

NM_033127.4

p.P762P

c.2286T>A

1 paper

NM_033127.4

p.G747V

c.2240G>T