Varaico: Literature-Extracted Genetic Variants

SEC22A

16 papers

RefSeq Summary

The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pa...

Pfam Domains

Longinaa 37–117UCSCRegulated-SNARE-like domain

SEC22a_Caa 181–295UCSCVesicle-trafficking protein SEC22a, C-terminal domain

Gene Aliases

HGNC Name

SEC22 homolog A, vesicle trafficking protein

HGNC Previous Symbol

SEC22L2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

1 paper

NM_012430.5

p.S19T

c.55T>A

1 paper

NM_012430.5

p.Q26K

c.76C>A

1 paper

NM_012430.5

p.E76E

c.228A>G

1 paper

NM_012430.5

p.Y78S

c.233A>C

1 paper

NM_012430.5

p.A83T

c.247G>A

1 paper

NM_012430.5

p.V107I

c.319G>A

1 paper

NM_012430.5

p.F115L

c.343T>C

1 paper

NM_012430.5

p.F115L

c.345T>A

1 paper

NM_012430.5

p.F115L

c.345T>G

1 paper

NM_012430.5

p.K123R

c.368A>G

1 paper

NM_012430.5

p.R125Q

c.374G>A

1 paper

NM_012430.5

p.Q142R

c.425A>G