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

1–12 of 206 variants

10 papers

NM_014822.4

p.S1015F

c.3044C>T

8 papers

NM_014822.4

p.Q205*

c.613C>T

8 papers

NM_014822.4

p.P292L

c.875C>T

8 papers

NM_014822.4

p.R313H

c.938G>A

8 papers

NM_014822.4

p.C908Y

c.2723G>A

8 papers

NM_014822.4

p.S948P

c.2842T>C

8 papers

NM_014822.4

p.Q978P

c.2933A>C

6 papers

NM_014822.4

p.T39fs

c.115_116fs

5 papers

NM_014822.4

p.Q832H

c.2496G>T

5 papers

NM_014822.4

p.Q832H

c.2496G>C

4 papers

NM_014822.4

p.G233R

c.697G>C

4 papers

NM_014822.4

p.R484*

c.1450C>T