Varaico: Literature-Extracted Genetic Variants

SEC22C

15 papers

RefSeq Summary

This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protei...

Pfam Domains

Longinaa 37–117UCSCRegulated-SNARE-like domain

SEC22a_Caa 177–291UCSCVesicle-trafficking protein SEC22a, C-terminal domain

Gene Aliases

HGNC Name

SEC22 homolog C, vesicle trafficking protein

HGNC Previous Symbol

SEC22L3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032970.4

p.F258V

c.772T>G

Surrounding Variants

1 paper

NM_032970.4

p.Q237delFs

c.711delC

1 paper

NM_032970.4

p.Q237fs

c.709_710fs

1 paper

NM_032970.4

p.H218Y

c.652C>T

1 paper

NM_032970.4

p.G188V

c.563G>T

1 paper

NM_032970.4

p.E182K

c.544G>A

1 paper

NM_032970.4

p.H172P

c.515A>C

1 paper

NM_032970.4

p.M165V

c.493A>G

1 paper

NM_032970.4

p.Q133*

c.397C>T