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.G1012R

c.3034G>A

Surrounding Variants

1 paper

NM_014822.4

p.Y1011_S1014delins

c.3031_3040delinsC

10 papers

NM_014822.4

p.S1015F

c.3044C>T

1 paper

NM_014822.4

p.D1018N

c.3052G>A

1 paper

NM_014822.4

p.Y1016_V1023del8

c.3046_3068del24

1 paper

NM_014822.4

p.M998V

c.2992A>G

1 paper

NM_014822.4

p.I1027M

c.3081C>G

8 papers

NM_014822.4

p.Q978P

c.2933A>C

1 paper

NM_014822.4

p.T957A

c.2869A>G

8 papers

NM_014822.4

p.S948P

c.2842T>C

1 paper

NM_014822.4

p.Q941*

c.2821C>T

1 paper

NM_014822.4

p.F928F

c.2784C>T

1 paper

NM_014822.4

p.F928L

c.2784C>G