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.P506_M509delFs

c.1517_1527del11

Surrounding Variants

1 paper

NM_014822.4

p.Q505_P506del2

c.1513_1517del6

1 paper

NM_014822.4

p.N498_V499del2

c.1492_1496del6

1 paper

NM_014822.4

p.P520L

c.1559C>T

1 paper

NM_014822.4

p.V493_L494delFs

c.1479_1480delGA

4 papers

NM_014822.4

p.L526F

c.1576C>T

1 paper

NM_014822.4

p.N528K

c.1584C>G

1 paper

NM_014822.4

p.N528K

c.1584C>A

4 papers

NM_014822.4

p.R484*

c.1450C>T

1 paper

NM_014822.4

p.P544L

c.1631C>T

1 paper

NM_014822.4

p.P473S

c.1417C>T

1 paper

NM_014822.4

p.E470*

c.1408G>T

1 paper

NM_014822.4

p.E464delFs

c.1390delC