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.T342delFs

c.1026delG

Surrounding Variants

1 paper

NM_014822.4

p.P339_A341delFs

c.1016_1023del8

1 paper

NM_014822.4

p.D324Y

c.970G>T

1 paper

NM_014822.4

p.Y317insFs

c.950_951dupAC

1 paper

NM_014822.4

p.T316_Y317insFs

c.946_949dup4

9 papers

NM_001318066.2

p.R314H

c.941G>A

NM_014822.4

p.R313H

c.938G>A

2 papers

NM_014822.4

p.R313C

c.937C>T

1 paper

NM_014822.4

p.R310*

c.928C>T

1 paper

NM_014822.4

p.Q302*

c.904C>T

1 paper

NM_014822.4

p.T287_I301del15

c.859_902del45

1 paper

NM_014822.4

p.T287_M300del14

c.859_899del42

1 paper

NM_014822.4

p.P293delFs

c.879delG

1 paper

NM_014822.4

p.P293del1

c.877_879delGGG