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.P801L

c.2402C>T

Surrounding Variants

2 papers

NM_014822.4

p.R806Q

c.2417G>A

1 paper

NM_014822.4

p.T813_A814del2

c.2437_2441del6

1 paper

NM_014822.4

p.A818T

c.2452G>A

1 paper

NM_014822.4

p.A829_S831del3

c.2485_2492del9

5 papers

NM_014822.4

p.Q832H

c.2496G>T

5 papers

NM_014822.4

p.Q832H

c.2496G>C

1 paper

NM_001318066.2

p.A791_K792del2

c.2371_2375del6

1 paper

NM_014822.4

p.N787N

c.2361C>T

1 paper

NM_014822.4

p.I786T

c.2357T>C

1 paper

NM_014822.4

p.E781Q

c.2341G>C

1 paper

NM_014822.4

p.G766S

c.2296G>A

1 paper

NM_014822.4

p.A748_H763del16

c.2242_2288del48