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.Q207_P208del1

c.621_623delGGC

Surrounding Variants

8 papers

NM_014822.4

p.Q205*

c.613C>T

1 paper

NM_014822.4

p.A204S

c.610G>T

1 paper

NM_014822.4

p.A204P

c.610G>C

1 paper

NM_014822.4

p.P200_P202delFs

c.600_604del5

1 paper

NM_014822.4

p.P202S

c.604C>T

2 papers

NM_014822.4

p.A218G

c.653C>G

1 paper

NM_014822.4

p.G217_A218delFs

c.650_653del4

1 paper

NM_014822.4

p.G219R

c.655G>C

1 paper

NM_014822.4

p.G219R

c.655G>A

1 paper

NM_014822.4

p.P221S

c.661C>T

2 papers

NM_014822.4

p.P193L

c.578C>T

1 paper

NM_014822.4

p.G180_P187delFs

c.538_560del23