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

4 papers

NM_014822.4

p.G233R

c.697G>C

Surrounding Variants

2 papers

NM_014822.4

p.A234T

c.700G>A

1 paper

NM_014822.4

p.L236L

c.708G>T

1 paper

NM_014822.4

p.S237Y

c.710C>A

1 paper

NM_014822.4

p.G241insFs

c.722_723insC

1 paper

NM_014822.4

p.G245R

c.733G>C

1 paper

NM_014822.4

p.G245S

c.733G>A

1 paper

NM_014822.4

p.Q248_M249del0

c.742_747del6

1 paper

NM_014822.4

p.A250_P255delFs

c.748_763del16

1 paper

NM_014822.4

p.P255_K258ins1

c.764_772dup9

1 paper

NM_014822.4

p.D260Y

c.778G>T

1 paper

NM_001318066.2

p.S264fs

c.790_791fs

1 paper

NM_001318066.2

p.S264delFs

c.791_792delAG