Varaico: Literature-Extracted Genetic Variants

Gene:SEC16B
Variant:p.H292R

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
6 papers
NM_033127.4
p.H292R
c.875A>G
Surrounding Variants
1 paper
NM_033127.4
p.H292Y
c.874C>T
1 paper
NM_033127.4
p.S297A
c.889T>G
1 paper
NM_033127.4
p.F284F
c.852C>T
2 papers
NM_033127.4
p.P278_H279ins11
c.834_835ins33
1 paper
NM_033127.4
p.V306F
c.916G>T
1 paper
NM_033127.4
p.S266_A267delFs
c.796_799del4
1 paper
NM_033127.4
p.A267P
c.799G>C
1 paper
NM_033127.4
p.S266fs
c.796_797fs
1 paper
NM_033127.4
p.S265F
c.794C>T
2 papers
NM_033127.4
p.S318S
c.954C>T
2 papers
NM_033127.4
p.R325T
c.974G>C
1 paper
NM_033127.4
p.S328_G329insCAT
c.982_986ins9
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