Varaico: Literature-Extracted Genetic Variants

SEC24D

126 papers

RefSeq Summary

The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of...

Pfam Domains

zf-Sec23_Sec24aa 360–398UCSCSec23/Sec24 zinc finger

Sec23_trunkaa 437–681UCSCSec23/Sec24 trunk domain

Sec23_BSaa 686–770UCSCSec23/Sec24 beta-sandwich domain

Sec23_helicalaa 781–883UCSCSec23/Sec24 helical domain

Gelsolinaa 899–974UCSCGelsolin repeat

Gene Aliases

HGNC Name

SEC24 homolog D, COPII component

HGNC Alias Symbol

KIAA0755

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014822.4

p.Q169delFs

c.505_506delTG

Surrounding Variants

1 paper

NM_014822.4

p.Q169P

c.506A>C

1 paper

NM_014822.4

p.P166_G167delFs

c.498_499delCA

1 paper

NM_014822.4

p.P172A

c.514C>G

2 papers

NM_014822.4

p.P161L

c.482C>T

1 paper

NM_014822.4

p.L178L

c.534C>T

1 paper

NM_014822.4

p.L178_G182del0

c.534_545del12

1 paper

NM_014822.4

p.P156delFs

c.466delG

1 paper

NM_014822.4

p.P185S

c.553C>T

1 paper

NM_014822.4

p.T154I

c.461C>T

1 paper

NM_014822.4

p.G180_P187delFs

c.538_560del23

1 paper

NM_014822.4

p.S148_A149delFs

c.442_446del5

1 paper

NM_014822.4

p.L147_S148insFs

c.441_442insC