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.F928L

c.2782T>C

Surrounding Variants

1 paper

NM_014822.4

p.F928F

c.2784C>T

1 paper

NM_014822.4

p.F928L

c.2784C>G

1 paper

NM_014822.4

p.F928L

c.2784C>A

1 paper

NM_014822.4

p.Q941*

c.2821C>T

1 paper

NM_014822.4

p.L913F

c.2737C>T

2 papers

NM_014822.4

p.R912C

c.2734C>T

1 paper

NM_014822.4

p.S911S

c.2733C>A

8 papers

NM_014822.4

p.C908Y

c.2723G>A

8 papers

NM_014822.4

p.S948P

c.2842T>C

1 paper

NM_014822.4

p.A904A

c.2712T>C

1 paper

NM_014822.4

p.G877_A879del3

c.2629_2636del9

1 paper

NM_014822.4

p.Q871_V873del3

c.2611_2618del9